Abasia (from Greek: a-, without and basis, step) is the inability to walk due to impaired muscle coordination. The term covers a spectrum of medical disorders such as:

• choreic abasia: caused by chorea of the legs
• paralytic abasia: caused by paralysis of the leg muscles
• spastic abasia: caused by spastic stiffening of the leg muscles
• trembling abasia: caused by trembling of the legs

Abasia is frequently accompanied by astasis, an inability to stand, see Astasia-abasia.

ABCD syndrome is the acronym for albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness. It has been found to be caused by mutation in the endothelin B receptor gene (EDNRB).

ABCD syndrome
Classification and external resources
Facial morphology of Waardenburg syndrome, not type IV

Classification

ABCD syndrome is defined as A- albinism, B- black lock, C- cell migration disorder of the neurocytes of the gut, and D- deafness. It was initially misdiagnosed and later discovered that a homozygous mutation in the EDNRB gene causes ABCD syndrome. This helped scientists discover that it is the same as type IV Waardenburg syndrome, also known as Shah-Waardenburg Syndrome.

Characteristics

In the beginning, medical officials defined ABCD syndrome by the four key characteristics of the syndrome. In the first case study of the Kurdish girl, researches described her as having “albinism and a black lock at the right temporo-occiptital region along Blaschko lines, her eyelashes and brows were white, the irises in her eyes appeared to be blue, she had spots of retinal depigmentation, and she did not react to noise” ^[1] The A in this syndrome is for albinism which is interesting in this diagnosis because the skin of an affected individual is albino pale besides the brown patches of mispigmented skin. The B of ABCD is described and seen in clinical pictures of the infants as “black locks” that are thick patches of black hair located above the ears and form a half circle reaching to the other ear to make a crest shape. As identified in this first case study and stated in a dictionary of dermatologic syndromes, ABCD syndrome has many notable features, including “snow white hair in patches, distinct black locks of hair, skin white except brown macules, deafness, irides gray to blue, nystagmus, photophobia, poor visual activity, normal melanocytes in pigmented hair and skin, and absent melanocytes in areas of leukoderma” ^[2]. Individuals have the blue/gray irises typical of people affected by blindness. The C of ABCD syndrome is what distinguishes this genetic disorder from BADS and it involves cell migration disorder of the neurocytes of the gut. The additional characteristic in ABCD occurs when nerve cells do not function correctly in the gut, which results in aganglionosis - the intestines’ failure to move food along the digestive tract. D of ABCD is deafness or being unresponsive to noise due to very low quality of hearing, which was reported in every case of ABCD syndrome. The characteristics of ABCD syndrome are clearly evident in an inflicted individual.

No longer considered a separate syndrome, ABCD syndrome is today considered to be a variation of Shah-Waardenburg type IV. P.J. Waardenburg syndrome (WS) is described as “the combination of sensorinerual hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of the irides” ^[3]. Hearing loss and deafness, skin mispigmentation and albinism, and pigmentary changes in irises are the similarities between WS and ABCD. According to the dictionary of dermatologic syndromes, Waardenburg syndrome has many notable features, including “depigmentaion of hair and skin - white forelock and prematuring graying of hair, confluent thick eyebrows, heterochromic irides or hypopigmentation of iris, laterally displacy inner canthi, congenital sensorinerual deafness, broad nasal root, autosomal dominant disorder, and other associated findings, including black forelocks” ^[2].

Causes

Researchers in the past 20 years have determined that a gene mutation, specifically a homozygous mutation in the EDNRB gene, is the cause of ABCD syndrome. The advancement of technology led to new DNA material testing methods and this discovery changed the view of ABCD syndrome completely. A homozygous mutation means that there was an identical mutation on both the maternal and paternal genes. The identifying clinical report stated the test was done by scanning the Kurdish family for mutations in the EDNRB gene and the EDN3 gene by using a test called denaturing gradient gel electrophoresis. The electrophoresis test takes advantage of electrical currents and differences in melting points of fragments of DNA or RNA to move them based on their molecular weight; the differences in mobility of the fragments then can be analyzed to determine different sequences and to detect individual alleles. Different nucleotides in DNA are codes for certain proteins, which are formed by different patterns of the base pairs adenine, thymine, guanine, and cytosine. The combination of adenine and thymine and guanine and cytosine align on the double strands of DNA. The test results found “an aberrant DGGE pattern of exon 3 of the EDNRB gene. The mutation was determined to be a homozygous C to T base pair transition at the amino acid level, causing a premature stop in gene translation” ^[3]. This specialized testing enables geneticists to recognize the gene mutation that is the cause of ABCD syndrome.

New findings introduced an important break in the beliefs about ABCD syndrome because the endotherlin B gene is a gene involved in Shah-Waardenburg syndrome. The endothelin receptor B produces Waardenburg syndrome type IV ^[4]. Researchers began discussing the possibility that ABCD syndrome was in fact not a syndrome - rather it was a type of another syndrome known as Waardenburg. Discovering that the same gene is involved in both ABCD syndrome and Waardenburg syndrome is important because researchers can now look further into ways to fix this crucial gene that causes so many abnormalities on the inside and the outside of individuals.

Screening

Screening generally only takes place among those displaying several of the symptoms of ABCD, but a study on a large group of institutionalized deaf people in Columbia revealed that 5.38% of them were Waardenburg patients. Because of its rarity, none of the patients were diagnosed with ABCD (Waardenburg Type IV). Nothing can be done to prevent the disease.

Diagnosis

The occurrence of WS has been reported to be one in 45,000 in Europe. The diagnosis can be made prenatally by ultrasound due to the phenotype displaying pigmentary disturbances, facial abnormalities, and other developmental defects ^[5]. After birth, the diagnosis is initially made symptomatically, and can be confirmed through genetic testing. If the diagnosis is not made early enough, complications can arise from the Hirschsprungs.

Treatment

Treatment for the disease itself is nonexistent, but options for most of the individual symptoms do exist. For example, one suffering from hearing loss would be given hearing aids, and those with Hirschsprung’s disorder can be treated with a colostomy.

Prognosis

If the Hirschsprung’s disease is treated in time, ABCD sufferers live otherwise healthy lives. If it is not found soon enough, death often occurs in infancy. For those suffering hearing loss, it is generally regressive and the damage to hearing increases over time. Digestive problems from the colostomy and reattachment may exist, but in most cases can be treated with laxatives. The only other debilitating symptom is hearing loss, which is usually degenerative and can only be treated with surgery or hearing aids.

History

Dutch ophthalmologist, Petrus Johannes Waardenburg (1886–1979), brought about the idea of Waardenburg syndrome when he examined two patients—deaf twins.^[6] Waardenburg decided to define the syndrome with the six major symptoms that patients most commonly had. Firstly, he defined, “lateral displacement of the medial canthi combined with dystopia of the lacrimal punctum and blepharophimosis” referring to those people with broader and more flat nasal bridge, which in turn leads to folds in the skin that cover the inner corners of the eye.^[6] Secondly, people who are born with a “prominent broad nasal root,” have a widened area between the eyes, causing them to have a more flat and wider face, along with eyes further apart than normal.^[6] Thirdly, “hypertrichosis of the medial part of the eyebrows” is present, meaning excessive hair growth in the patients’ eyebrow region, most likely leading to a unibrow.^[6] The fourth symptom, “white forelock,” was commonly seen as depigmented strands of hair, fifth “heterochromia iridis,” indicates that the patient had two different colored eyes, or two different colors in the same eyes, and finally, “deaf-mutism” classifying that people with the disorder are both deaf and mute.^[6]

When scientists further investigated the syndrome, they realized that patients exhibited a wider range of symptoms of this disease in different combinations. This helped them distinguish different forms of Waardenburg syndrome. Their evaluation consisted of specifying Waardenburg syndrome type I (WS1), type II (WS2), type III (WS3), and type IV (WS4).

In 1995, a case study was performed of a Kurdish family. Scientists completed a molecular analysis with DNA strands of the patients diagnosed with ABCD syndrome. Their task was to scan the sequences to find a mutation in the EDNRB gene, one of the most important protein-coding genes. When they completed the scan they “found a homozygous C to T transition resulting, at the amino acid level, in a premature stop codon” ^[3]. Then, they went back and defined that Shah-Waardenburg syndrome consisted majorly of “mutations in the ENDRB or END3 gene,” along “with [some] SOX10 mutations” ^[3]. Therefore, the researchers confirmed that ABCD syndrome was a form of Shah-Waardenburg syndrome. The genetic tests that they performed on the patients DNA helped in identifying the appropriate diagnosis.

Later, Whitkop, another scientists, in 2002, examined patients born with white hair, some black locks, and depigmented skin, hence, he diagnosed them as having black lock albinism deafness syndrome also known as BADS ^[1]. Those who were closely working with this case suggested that it was an autoimmune disorder rather than a genetic defect. However, soon after, they had a patient come in who was one of fourteen children of Kurdish parents. The pedigree they examined revealed autosomal-recessive inheritance which led to cell migration of the neurocytes in the gut, and therefore, they redefined the syndrome as ABCD Syndrome” ^[1]. This revealed “a homozygous nonsense mutation in the EDNRB gene” meaning that ABCD Syndrome was not a separate entity, but rather the same as Shah-Waardenburg syndrome ^[3].

References

Aase syndrome or Aase-Smith syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities. Aase syndrome is thought to be an autosomal recessive inherited disorder.^[1] The genetic basis of the disease is not known. The anemia is caused by underdevelopment of the bone marrow, which is where blood cells are formed.

It is named after the American paediatricians Jon Morton Aase and David Weyhe Smith, who characterized it in 1968.^[2]

Symptoms

• Mildly slowed growth
• Pale skin
• Delayed closure of fontanelles (soft spots)
• Narrow shoulders
• Triple jointed thumbs, absent or small knuckles, decreased skin creases at finger joints
• Inability to fully extend the joints from birth (congenital contractures)
• Cleft palate
• Deformed ears
• Droopy eyelids

Signs and tests

• A CBC (complete blood count) will show anemia and a decrease in the white blood cell count.
• An echocardiogram may reveal heart defects (ventricular septal defect is most common).
• X-rays will show skeletal abnormalities as described above.
• A bone marrow biopsy may be performed.

Treatment

Frequent blood transfusions are given in the first year of life to treat anemia. Prednisone may be given, although this should be avoided in infancy because of side effects on growth and brain development. A bone marrow transplant may be necessary if other treatment fails.

Prognosis

Anemia usually resolves over the years.

Complications

• Complications related to anemia include weakness, fatigue, and decreased oxygenation of the blood.
• Decreased white blood cells alter the body's ability to fight infection.
• If a heart defect exists, it may cause multiple complications (depending on the specific defect).
• Severe cases have been associated with still birth or early death.

Prevention

As with most genetic diseases there is no way to prevent the entire disease. With prompt recognition and treatment of infections in childhood, the complications of low white blood cell counts may be limited.

References

Aarskog–Scott syndrome is an inherited disease characterized by short stature, facial abnormalities, skeletal and genital anomalies.

The Aarskog–Scott syndrome (AAS) is also known as the Aarskog syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia.

Signs and symptoms

The Aarskog–Scott syndrome is a disorder with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils, joint laxity, shawl scrotum, and mental retardation. The physical phenotype varies with age and postpuberal males may have only minor remnant manifestations of the prepuberal phenotype.

• Growth
  • mild to moderate short stature evident by 1–3 years of age
  • delayed adolescent growth spurt
• Performance
  • slight (dull normal) to moderate mental deficiency
  • hyperactivity and attention deficit
  • social performance usually good
• Face
  • rounded face
  • widow's peak hairline
  • wide-set eyes (hypertelorism)
  • droopy eyelids (blepharoptosis)
  • downslanting eye slits (palpebral fissures)
  • small nose with nostrils tipped forward (anteverted)
  • underdeveloped mid-portion of the face (maxilla)
  • wide groove above the upper lip (broad philtrum)
  • crease below the lower lip
  • delayed eruption of teeth
  • top portion (upper helix) of the ear folded over slightly
• Hands and feet
  • small, broad hands and feet
  • short fingers and toes (brachydactyly)
  • in-curving of the 5th finger (clinodactyly)
  • mild interdigital webbing, between fingers as well as toes
  • single transverse "simian crease" in palm
  • broad thumbs and big toes
• Neck
  • short neck
  • webbing of sides of the neck
• Chest
  • mild pectus excavatum (sunken chest)
• Abdomen
  • protruding navel
  • inguinal hernias
• Genitalia
  • Shawl Scrotum
  • undescended testicles

Genetics

Aarskog–Scott syndrome is transmitted in an X-linked recessive manner. The sons of female carriers are at 50% risk of being affected with the syndrome. The daughters of female carriers are at 50% risk of being carriers themselves. Females may have mild manifestations of the syndrome. The syndrome is caused by mutation in a gene called FGDY1 in band p11.21 on the X chromosome.

Pathophysiology

The Aarskog–Scott syndrome is due to mutation in the FGD1 gene. FGD1 encodes a guanine nucleotide exchange factor (GEF) that specifically activates Cdc42, a member of the Rho (Ras homology) family of the p21 GTPases. By activating Cdc42, FGD1 protein stimulates fibroblasts to form filopodia, cytoskeletal elements involved in cellular signaling, adhesion, and migration. Through Cdc42, FGD1 protein also activates the c-Jun N-terminal kinase (JNK) signaling cascade, a pathway that regulates cell growth, apoptosis, and cellular differentiation.

Within the developing mouse skeleton, FGD1 protein is expressed in precartilaginous mesenchymal condensations, the perichondrium and periosteum, proliferating chondrocytes, and osteoblasts. These results suggest that FGD1 signaling may play a role in the biology of several different skeletal cell types including mesenchymal prechondrocytes, chondrocytes, and osteoblasts. The characterization of the spatiotemporal pattern of FGD1 expression in mouse embryos has provided important clues to the understanding of the pathogenesis of Aarskog–Scott syndrome.

It appears likely that the primary defect in Aarskog–Scott syndrome is an abnormality of FGD1/Cdc42 signaling resulting in anomalous embryonic development and abnormal endochondral and intramembranous bone formation.

Diagnosis

Genetic testing may be available for mutations in the FGDY1 gene. Genetic counseling is indicated for individuals or families who may carry this condition, as there are overlapping features with Fetal alcohol syndrome.^[1]

Treatment

Surgery may be required to correct some of the anomalies, and orthodontic treatment may be used to correct some of the facial abnormalities. Trials of growth hormone have not been effective to treat short stature in this disorder.

Prognosis

Mild degrees of mental slowness may be present, but affected children usually have good social skills. Some males may exhibit reduced fertility.

Some recent findings have included cystic changes in the brain and generalized seizures^{[citation needed]} . There may be difficulty growing in the first year of life in up to one-third of cases. Misaligned teeth may require orthodontic correction. An undescended testicle will require surgery.

Adenylosuccinate lyase deficiency (MIM 103050, ADSL) is a rare autosomal recessive disease causing severe mental retardation and/or autistic features.1,2 Seizures are often observed (80%),3 varying in age of onset (from newborn to late childhood) and nature (tonic-clonic, “suppression burst” pattern, West syndrome, etc.), and are very often resistant to all medication. Around 50% of the children show autistic-like behaviour.4 Microcephaly is rare (1/13 of reported cases). Non-specific anomalies of the brain, such as hypoplasia of the vermis, cerebral atrophy,5 lack of myelination,6 white matter anomalies,7 and lissencephaly4 have often been described.

Other Complications: • Low self-esteem • Social difficulties related to physical problems • Male infertility in those with both testes undescended • Problems with the structure of the heart • Accumulation of fluid in tissues of body (lymphedema, cystic hygroma) • Failure to thrive in infants.

History

The syndrome is named for Dagfinn Aarskog, a Norwegian pediatrician and human geneticist who first described it in 1970,^[2] and for Charles I. Scott, Jr., an American medical geneticist who independently described the syndrome in 1971.^[3]

References

1. ^ CDC. (2004). Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis. Can be downloaded at http://www.cdc.gov/fas/faspub.htm
2. ^ Aarskog D (1970). "A familial syndrome of short stature associated with facial dysplasia and genital anomalies". J. Pediatr. 77 (5): 856–61. doi:10.1016/S0022-3476(70)80247-5. PMID 5504078.
3. ^ Scott CI (1971). "Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome". Birth Defects Orig. Artic. Ser. 7 (6): 240–6. PMID 5173168.

• Kenneth Lyons Jones: Smith's Recognizable Patterns of Human Malformation, 6th Edition (2005), WB Saunders, Philadelphia ISBN 0-7216-2359-X

• Orrico A, Galli L, Cavaliere ML, et al. (2004). "Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients". Eur. J. Hum. Genet. 12 (1): 16–23. doi:10.1038/sj.ejhg.5201081. PMID 14560308. http://www.nature.com/ejhg/journal/v12/n1/abs/5201081a.html.

Aa-Ab

• Aagenaes syndrome
• Aarskog Ose Pande syndrome
• Aarskog syndrome
• Aase Smith syndrome
• Aase syndrome
• ABCD syndrome
• Abasia
• Abdallat Davis Farrage syndrome
• Abdominal aortic aneurysm
• Abdominal cystic lymphangioma
• Abdominal defects
• Abdominal musculature absent microphthalmia joint laxity
• Abdominal neoplasm / Abdominal neoplasms
• Aberrant subclavian artery
• Ablepharon macrostomia syndrome
• Abnormal systemic venous return
• Abruzzo Erickson syndrome
• Absence of Gluteal muscle
• Absence of tibia with polydactyly
• Absent corpus callosum cataract immunodeficiency
• Absent T lymphocytes

Ac

Aca-Acc

• Acalvaria
• Acanthocheilonemiasis
• Acanthocytosis chorea
• Acanthocytosis
• Acanthosis nigricans
• Acatalasemia
• Accessory deep peroneal nerve
• Accessory Navicular bone
• Accessory pancreas

Ach-Ack

• Achalasia alacrimia syndrome
• Achalasia microcephaly
• Achalasia, familial esophageal
• Achalasia
• Achalasia-Addisonianism-Alacrimia syndrome
• Achard syndrome
• Achard-Thiers syndrome
• Acheiropodia
• Achondrogenesis Kozlowski type
• Achondrogenesis type 1A
• Achondrogenesis type 1B
• Achondrogenesis type 2
• Achondrogenesis
• Achondroplasia Swiss type agammaglobulinemia
• Achondroplasia
• Achondroplastic dwarfism
• Achromatopsia incomplete, X-linked
• Achromatopsia
• Acid maltase deficiency
• Acidemia, isovaleric
• Acidemia, propionic
• Acitretine antenatal infection
• Ackerman syndrome

Acn-Acq

• Acne rosacea
• Acne
• Acoustic neuroma
• Acoustic schwannomas
• Acquired agranulocytosis
• Acquired hypoprothrombinemia
• Acquired Immune Deficiency Syndrome
• Acquired ichthyosis
• Acquired prothrombin deficiency
• Acquired syphilis
• anger irritation syndrome ais

Acr

Acra

• Acral dysostosis dyserythropoiesis
• Acral renal mandibular syndrome

Acro

• Acro coxo mesomelic dysplasia
• Acrofrontofacionasal dysostosis

Acroc-Acrok

• Acrocallosal syndrome, Schinzel type
• Acrocephalopolydactyly
• Acrocephalosyndactyly Jackson Weiss type
• Acrocephaly
• Acrocephaly pulmonary stenosis mental retardation
• Acrocyanosis
• Acrodermatitis enteropathica
• Acrodermatitis
• Acrodysostosis
• Acrodysplasia
• Acrodysplasia scoliosis
• Acrofacial dysostosis
• Acrofacial dysostosis ambiguous genitalia
• Acrofacial dysostosis atypical postaxial
• Acrofacial dysostosis Catania form
• Acrofacial dysostosis Preis type
• Acrofacial dysostosis Rodriguez type
• Acrofacial dysostosis Weyers type
• Acrofacial dysostosis, Nager type
• Acrofacial dysostosis, Palagonia type
• Acrokeratoelastoidosis of Costa

Acrom-Acros

• Acromegaloid changes cutis verticis gyrata corneal
• Acromegaloid facial appearance syndrome
• Acromegaloid hypertrichosis syndrome
• Acromegaly
• Acromesomelic dysplasia Brahimi Bacha type
• Acromesomelic dysplasia Campailla Martinelli type
• Acromesomelic dysplasia Hunter Thompson type
• Acromesomelic dysplasia, Maroteaux type
• Acromesomelic dysplasia
• Acromicric dysplasia
• Acroosteolysis dominant type
• Acroosteolysis neurogenic
• Acroosteolysis osteoporosis skull and mandible changes
• Acropectoral syndrome
• Acropectorenal field defect
• Acropectorovertebral dysplasia
• Acrophobia
• Acropigmentation of Dohi
• Acrorenal syndrome recessive
• Acrorenoocular syndrome
• Acrospiroma

Act

• ACTH deficiency
• ACTH resistance
• Atelectasis
• Actinic keratosis
• Actinomycetales causes anal infection
• Actinomycosis
• Activated protein C resistance

Acu

Acut

Acuta

• Acutane embryopathy

Acute

Acute a-Acute l

• Acute anxiety
• Acute articular rheumatism
• Acute erythroblastic leukemia
• Acute febrile neutrophilic dermatosis
• Acute gouty arthritis
• Acute idiopathic polyneuritis
• Acute intermittent porphyria
• Acute lymphoblastic leukemia congenital sporadic aniridia
• Acute lymphoblastic leukemia
• Acute lymphocytic leukemia

Acute m-Acute p

• Acute megakaryoblastic leukemia
• Acute monoblastic leukemia
• Acute monocytic leukemia
• Acute mountain sickness
• Acute myeloblastic leukemia type 1
• Acute myeloblastic leukemia type 2
• Acute myeloblastic leukemia type 3
• Acute myeloblastic leukemia type 4
• Acute myeloblastic leukemia type 5
• Acute myeloblastic leukemia type 6
• Acute myeloblastic leukemia type 7
• Acute myeloblastic leukemia with maturation
• Acute myeloblastic leukemia without maturation
• Acute myelocytic leukemia
• Acute myelogenous leukemia
• Acute myeloid leukemia (generic term)
• Acute myeloid leukemia, secondary
• Acute myelomonocytic leukemia
• Acute necrotizing ulcerative gingivitis
• Acute non lymphoblastic leukemia (generic term)
• Acute pancreatitis
• Acute posterior multifocal placoid pigment epitheliopathy
• Acute promyelocytic leukemia

Acute r-Acute t

• Acute renal failure
• Acute respiratory distress syndrome
• Acute tubular necrosis

Acy

• Acyl-CoA dehydrogenase, medium chain, deficiency of
• Acyl-CoA dehydrogenase, short chain, deficiency of
• Acyl-CoA dehydrogenase, very long chain, deficiency of
• Acyl-CoA oxidase deficiency

Ad

Ada-Adi

• Adactylia unilateral dominant
• Adam complex familial
• Adams Nance syndrome
• Adams-Oliver syndrome
• Addison's disease
• Adducted thumb club foot syndrome
• Adducted thumb syndrome recessive form
• Adducted thumbs Dundar type
• Adenine phosphoribosyltransferase deficiency
• Adenocarcinoid tumor
• Adenocarcinoma of lung
• Adenocarcinoma of Esophagus
• Adenoid cystic carcinoma
• Adenoma of the adrenal gland
• Adenoma
• Adenomelablastoma
• Adenomyosis
• Adenosine deaminase deficiency
• Adenosine monophosphate deaminase deficiency
• Adenosine triphosphatase deficiency, anemia due to
• Adenylosuccinate lyase deficiency
• Adie syndrome
• Adiposis dolorosa aka Dercum's disease

Ado-Adr

• Adolescent benign focal crisis
• Adrenal adenoma, familial
• Adrenal cancer
• Adrenal disorder
• Adrenal gland hyperfunction
• Adrenal gland hypofunction
• Adrenal hyperplasia, congenital
• Adrenal hyperplasia
• Adrenal hypertension
• Adrenal hypoplasia congenital, X-linked
• Adrenal hypoplasia
• Adrenal incidentaloma
• Adrenal insufficiency
• Adrenal macropolyadenomatosis
• Adrenal medulla neoplasm
• Adrenocortical carcinoma
• Adrenogenital syndrome
• Adrenoleukodystrophy, autosomal, neonatal form
• Adrenoleukodystrophy, X-linked
• Adrenoleukodystrophy
• Adrenomyodystrophy

Adu

• Adult onset Still's disease
• Adult Spinal Muscular Atrophy
• Adult syndrome
• Advanced sleep phase syndrome

Ae-Ah

• Afibrinogenemia
• Agammaglobulinemia
• Aganglionosis
• Aganglionosis, total intestinal
• Aging
• Aggressive fibromatosis
• Agnathia
• Agnathia holoprosencephaly situs inversus
• Agnosia, primary visual
• Agoraphobia
• Agyria
• Agyria pachygyria polymicrogyria
• Agyria-pachygyria type 1
• Ahumada-Del Castillo syndrome

Ai-Ak

• Aicardi syndrome
• Aicardi-Goutières syndrome
• Aichmophobia
• AIDS
• AIDS Dementia Complex
• AIDS dysmorphic syndrome
• Ainhum
• Akaba Hayasaka syndrome
• Akesson syndrome
• Aksu Stckhausen syndrome

Al

• Al Awadi Teebi Farag syndrome
• Al Frayh Facharzt Haque syndrome
• Al Gazali Al Talabani syndrome
• Al Gazali Aziz Salem syndrome
• Al Gazali Donnai Mueller syndrome
• Al Gazali Hirschsprung syndrome
• Al Gazali Khidr Prem Chandran syndrome
• Al Gazali Sabrinathan Nair syndrome

Ala-Alc

• Alagille-Watson syndrome (AWS)
• Alar nasal cartilages coloboma of telecanthus
• Albers-Schonberg disease
• Albinism deafness syndrome
• Albinism immunodeficiency
• Albinism ocular late onset sensorineural deafness
• Albinism oculocutaneous, Hermansky-Pudlak type
• Albinism, minimal pigment type
• Albinism, ocular
• Albinism, yellow mutant type
• Albinism
• Albinoidism
• Albrecht Schneider Belmont syndrome
• Albright Turner Morgani syndrome
• Albright's her ary osteodystrophy
• Albright's syndrome
• Alcaptonuria
• Alcohol antenatal infection
• Alcohol fetopathy
• Alcoholic hepatitis
• Alcoholic liver cirrhosis

Ald-All

• Aldolase A deficiency
• Aldred syndrome
• Aleukemic leukemia cutis
• Alexander disease
• Alien hand syndrome
• Alkaptonuria
• Allain Babin Demarquez syndrome
• Allan Herndon syndrome
• Allanson Pantzar McLeod syndrome
• Allergic angiitis
• Allergic autoimmune thyroiditis
• Allergic bronchopulmonary aspergillosis
• Allergic encephalomyelitis

Alo

• Aloi Tomasini Isaia syndrome
• Alopecia
• Alopecia anosmia deafness hypogonadism syndrome
• Alopecia areata
• Alopecia congenita keratosis palmoplantaris
• Alopecia contractures dwarfism mental retardation
• Alopecia epilepsy oligophrenia syndrome of Moynahan
• Alopecia hypogonadism extrapyramidal disorder
• Alopecia immunodeficiency
• Alopecia macular degeneration growth retardation
• Alopecia mental retardation hypogonadism
• Alopecia mental retardation syndrome
• Alopecia totalis
• Alopecia universalis onychodystrophy vitiligo
• Alopecia universalis
• Alopecia, epilepsy, pyorrhea, mental subnormality

Alp-Alz

• Alpers disease
• Alpha 1-antitrypsin deficiency
• Alpha-2 deficient collagen disease
• Alpha-ketoglutarate dehydrogenase deficiency
• Alpha-L-iduronidase deficiency
• Alpha-mannosidosis
• Alpha-sarcoglycanopathy
• Alpha-thalassemia
• Alpha-thalassemia-abnormal morphogenesis
• Alport syndrome macrothrombocytopenia
• Alport syndrome, dominant type
• Alport syndrome, recessive type
• Alport syndrome
• Alstrom's syndrome
• Alternating hemiplegia of childhood
• Alternating hemiplegia
• Aluminium lung
• Alveolar Capillary Dysplasia
• Alveolar echinococcosis
• Alveolar soft part sarcoma
• Alveolitis, extrinsic allergic
• Alves Dos Santos Castello syndrome
• Alzheimer's disease
• Alzheimer disease, familial

Am

Ama-Amy

• Amaurosis
• Amaurosis congenita of Leber, type 1
• Amaurosis congenita of Leber, type 2
• Amaurosis congenita of Leber
• Amaurosis hypertrichosis
• Amblyopia
• Ambral syndrome
• Ambras syndrome
• Amegakaryocytic thrombocytopenia
• Amelia (birth defect)
• Amelia cleft lip palate hydrocephalus iris coloboma
• Amelia facial dysmorphism
• Amelia X linked
• Amelogenesis
• Amelogenesis Imperfecta hypomaturation type
• Amelogenesis imperfecta local hypoplastic form
• Amelogenesis imperfecta nephrocalcinosis
• Amelogenesis imperfecta
• Ameloonychohypohidrotic syndrome
• Amenorrhea
• American trypanosomiasis
• Amyotrophic lateral sclerosis

An

Ana-Ane

• Anaphylaxis
• Anaplastic thyroid cancer
• Andersen's disease
• Andre syndrome
• Androgen insensitivity syndrome (AIS)
• Anemia sideroblastic spinocerebellar ataxia
• Anemia, Diamond-Blackfan
• Anemia, Hypoplastic, Congenital
• Anemia, Pernicious
• Anemia, Sideroblastic
• Anemia
• Anencephaly spina bifida X linked
• Anencephaly
• Aneurysm of sinus of Valsalva
• Aneurysm, intracranial berry
• Aneurysm

Ang

• Angel shaped phalangoep
• Angiofollicular lymph hyperplasia
• Angioimmunoblastic lymphadenopathy with dysproteinemia
• Angiokeratoma mental retardation coarse face
• Angiolipoma
• Angioma
• Angioma her ary neurocutaneous
• Angiomatosis
• Angiomatosis encephalotrigeminal
• Angiomatosis leptomeningeal capillary - venous
• Angiomatosis systemic cystic seip syndrome
• Angiomyomatous hamartoma
• Angioneurotic edema her ary due to C1 esterase deficiency
• Angiosarcoma
• Angiosarcoma of the liver
• Angiosarcoma of the scalp
• Angiostrongyliasis
• Angiotensin renin aldosterone hypertension
• Anguillulosis

Ani-Ank

• Aniridia absent patella
• Aniridia ataxia renal agenesis psychomotor retardation
• Aniridia cerebellar ataxia mental deficiency
• Aniridia mental retardation syndrome
• Aniridia ptosis mental retardation obesity familial
• Aniridia renal agenesis psychomotor retardation
• Aniridia type 2
• Aniridia, sporadic
• Aniridia
• Anisakiasis
• Ankle defects short stature
• Ankyloblepharon ectodermal defects cleft lip palate
• Ankyloblepharon filiforme adnatum cleft palate
• Ankyloblepharon filiforme imperforate anus
• Ankyloglossia heterochromia clasped thumbs
• Ankylosing spondylarthritis
• Ankylosing spondylitis
• Ankylosing vertebral hyperostosis with tylosis
• Ankylosis
• Ankylosis of teeth
• Ankylostomiasis

Ann

• Annular constricting bands
• Annular pancreas
• Annuloaortic ectasia

Ano

• Anodontia
• Anonychia
• Anonychia ectrodactyly
• Anonychia microcephaly
• Anonychia onychodystrophy brachydactyly type B
• Anonychia onychodystrophy
• Anophthalia
• Anophthalia pulmonary hypoplasia
• Anophthalmia
• Anophthalmia cleft lip palate hypothalamic disorder
• Anophthalmia cleft palate micrognathia
• Anophthalmia esophageal atresia cryptorchidism
• Anophthalmia megalocornea cardiopathy skeletal anomalies
• Anophthalmia microcephaly hypogonadism
• Anophthalmia plus syndrome
• Anophthalmia short stature obesity
• Anophthalmia Waardenburg syndrome
• Anophthalmos
• Anophthalmos with limb anomalies
• Anophthalmos, clinical
• Anorchia
• Anorchidism
• Anorectal anomalies
• Anorectal atresia / Ano-rectal atresia
• Anorexia nervosa
• Anosmia
• Anotia facial palsy cardiac defect
• Anotia

Ans-Ant

• Ansell Bywaters Elderking syndrome
• Anterior horn disease
• Anterior pituitary insufficiency, familial
• Anthrax
• Anti-factor VIII autoimmunization
• Antigen-peptide-transporter 2 deficiency
• Anti-HLA hyperimmunization
• Antihypertensive drugs antenatal infection
• Antinolo Nieto Borrego syndrome
• Antiphospholipid syndrome
• Anti-plasmin deficiency
• Anti-plasmin deficiency, congenital
• Antisocial personality disorder
• Antisynthetase syndrome
• Antithrombin deficiency, congenital
• Antley-Bixler syndrome
• Anton syndrome

Ao

• Aorta-pulmonary artery fistula
• Aortic aneurysm
• Aortic arch anomaly peculiar facies mental retardation
• Aortic arch interruption
• Aortic arches defect
• Aortic coarctation
• Aortic dissection
• Aortic dissection lentiginosis
• Aortic supravalvular stenosis
• Aortic valve stenosis
• Aortic valves stenosis of the child
• Aortic window

Ap

Ape-App

• Apert like polydactyly syndrome
• Apert syndrome
• Aphalangia
• Aphalangia hemivertebrae
• Aphalangia syndactyly microcephaly
• Aphthous stomatitis
• Apiphobia
• Aplasia
• Aplasia cutis autosomal recessive
• Aplasia cutis congenita dominant
• Aplasia cutis congenita epibulbar dermoids
• Aplasia cutis congenita intestinal lymphangiectasia
• Aplasia cutis congenita of limbs recessive
• Aplasia cutis congenita recessive
• Aplasia cutis congenita
• Aplasia cutis myopia
• Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails
• Aplastic anemia
• Aplastic crisis
• Apo A-I deficiency
• Apolipoprotein C-II deficiency
• Apparent mineralocorticoid excess
• Appelt-Gerken-Lenz syndrome
• Appendicitis

Apr-Apu

• Apraxia manual
• Apraxia, Ideomotor
• Apraxia, ocular motor, Cogan type
• Apraxia
• Apudoma

Aq

• Aqueductal stenosis
• Aqueductal stenosis, X linked

Ar

Ara-Aro

• Arachindonic acid, absence of
• Arachnodactyly
• Arachnodactyly ataxia cataract aminoaciduria mental retardation
• Arachnodactyly mental retardation dysmorphism
• Arachnoid cysts
• Arachnoiditis
• Arakawa's syndrome II
• Arbovirosis
• Arc syndrome
• Aredyld syndrome
• AREDYLD
• Arginase deficiency
• Arginemia
• Argininosuccinate synthetase deficiency
• Argininosuccinic aciduria
• Argyria
• Arhinia
• Arhinia choanal atresia microphthalmia
• Arnold Stickler Bourne syndrome
• Arnold-Chiari malformation
• Aromatase deficiency
• Aromatic amino acid decarboxylase deficiency

Arr

• Arrhinia
• Arrhythmogenic right ventricular dysplasia
• Arroyo Garcia Cimadevilla syndrome
• Arrythmogenic right ventricular dysplasia, familial

Art

Arte

• Arterial calcification of infancy
• Arterial dysplasia
• Arterial tortuosity
• Arteriovenous malformation
• Arteritis

Arth

• Arthritis short stature deafness
• Arthritis, Juvenile
• Arthritis
• Arthrogryposis due to muscular dystrophy
• Arthrogryposis ectodermal dysplasia other anomalies
• Arthrogryposis epileptic seizures migrational brain disorder
• Arthrogryposis IUGR thoracic dystrophy
• Arthrogryposis like disorder
• Arthrogryposis like hand anomaly sensorineural
• Arthrogryposis multiplex congenita CNS calcification
• Arthrogryposis multiplex congenita distal
• Arthrogryposis multiplex congenita neurogenic type
• Arthrogryposis multiplex congenita pulmonary hypoplasia
• Arthrogryposis multiplex congenita whistling face
• Arthrogryposis multiplex congenita, distal type 1
• Arthrogryposis multiplex congenita, distal type 2
• Arthrogryposis multiplex congenita, distal, x-linked
• Arthrogryposis multiplex congenita
• Arthrogryposis ophthalmoplegia retinopathy
• Arthrogryposis renal dysfunction cholestasis syndrome
• Arthrogryposis spinal muscular atrophy
• Arthrogryposis

Ary

• Arylsulfatase A deficiency

As

• Asbestosis
• Ascariasis
• Ascher's syndrome
• Aseptic meningitis
• Asherman's syndrome
• Ashman phenomenon
• Aspartylglycosaminuria
• Aspergillosis
• Asperger syndrome
• Asphyxia neonatorum
• Aspiration pneumonia
• Asplenia
• Astasis
• Astasia-abasia
• Asthenia
• Asthma
• Astrocytoma
• Asymmetric septal hypertrophy

At

• Ataxia
• Ataxia telangiectasia variant V1
• Ataxia telangiectasia
• Ataxia, Marie's
• Atelectasis
• Atelosteogenesis, type II
• Athabaskan brain stem dysgenesis
• Atherosclerosis
• Athetosis
• Athlete's foot
• Atopic Dermatitis
• Atresia
• Atresia of small intestine
• Atrial myxoma
• Atrial septal defect
• Atrioventricular fistula
• Atrioventricular septal defect
• Atrophic vaginitis
• Atrophoderma
• Atrophoderma of Pierini and Pasini
• Atrophy
• ATR-X
• Attention Deficit Hyperactivity Disorder
• Attenuated FAP
• Atypical lipodystrophy

Au-Az

• Aughton syndrome
• Ausems Wittebol Post Hennekam syndrome
• Autism
• Autoimmune hemolytic anemia
• Autoimmune hepatitis
• Autoimmune peripheral neuropathy
• Autoimmune polyendocrinopathy syndrome, type I
• Autonomic dysfunction
• Autonomic nervous system diseases
• Axial mesodermal dysplasia
• Axial mesodermal dysplasia spectrum
• Axial osteomalacia
• Axial osteosclerosis
• Ayazi syndrome