Antley-bixler syndrome with genital anomalies and disordered steroidogenesis

Preferred Label : Antley-bixler syndrome with genital anomalies and disordered steroidogenesis;

Symbol : ABS1;

CISMeF acronym : ABS1;

Type : Phenotype, molecular basis known;

Description : The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome P450 oxidoreductase gene (POR, 124015.0001);

Laboratory abnormalities : Normal baseline cortisol; Blunted cortisol response to adrenocorticotropic hormone (ACTH); Elevated 17-hydroxyprogesterone; Mildly elevated ACTH; Elevated progesterone; Elevated pregnenolone;

Prefixed ID : #201750;

Details

Origin ID

201750;

UMLS CUI

C3150099;

Currated CISMeF NLP mapping
- Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis [NCIt concept]
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis [ORDO Disease]
DO Cross reference
- Antley-Bixler syndrome [DO Concept]
Genes related to phenotype
- Cytochrome p450 oxidoreductase [OMIM gene]
HPO term(s)
- Abnormalities of placenta or umbilical cord [HPO term]
- Abnormality of the endocrine system [HPO term]
- Ambiguous genitalia [HPO term]
- Anteriorly placed anus [HPO term]
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid scrotum [HPO term]
- Brachycephaly [HPO term]
- Bronchomalacia [HPO term]
- Camptodactyly [HPO term]
- Carpal synostosis [HPO term]
- Chiari malformation [HPO term]
- Choanal atresia [HPO term]
- Choanal stenosis [HPO term]
- Chordee [HPO term]
- Clitoral hypertrophy [HPO term]
- Cloverleaf skull [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital vertical talus [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Decreased circulating progesterone [HPO term]
- Depressed nasal bridge [HPO term]
- Elevated circulating 17-hydroxyprogesterone [HPO term]
- Femoral bowing [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Hemivertebrae [HPO term]
- Horseshoe kidney [HPO term]
- Humeroradial synostosis [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Increased circulating ACTH level [HPO term]
- Joint contracture of the hand [HPO term]
- Labial hypoplasia [HPO term]
- Laryngomalacia [HPO term]
- Low maternal serum estriol [HPO term]
- Malar flattening [HPO term]
- Maternal virilization in pregnancy [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Oligohydramnios [HPO term]
- Polycystic ovaries [HPO term]
- Poorly formed pinnae [HPO term]
- Proptosis [HPO term]
- Radioulnar synostosis [HPO term]
- Rocker bottom foot [HPO term]
- Scoliosis [HPO term]
- Simple ear [HPO term]
- Single umbilical artery [HPO term]
- Small for gestational age [HPO term]
- Small scrotum [HPO term]
- Tarsal synostosis [HPO term]
- Temporal bossing [HPO term]
- Ulnar bowing [HPO term]
- Vesicovaginal fistula [HPO term]
ORDO concept(s)
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis [NCIt concept]
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients