Faciodigitogenital syndrome, autosomal recessive

Preferred Label : Faciodigitogenital syndrome, autosomal recessive;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Kuwait-type faciodigitogenital syndrome; Aarskog-like syndrome;

Description : The Aarskog faciodigitogenital syndrome (305400) is X-linked in most instances; however, sex-influenced autosomal dominant inheritance is possible in some (100050). Teebi et al. (1988) described an Arabic family with normal consanguineous parents and 5 children (3 males and 2 females) with some features of Aarskog syndrome in addition to unusual hair changes. The hair was coarse, dry, and relatively hypopigmented with widow's peak trait (194000). The hands were small and broad with mild interdigital webbing, fifth finger clinodactyly, and hyperextensible joints. The feet were small with metatarsus varus and stubby toes. Hypertelorism and, in the males, shawllike scrotum completed the similarities to Aarskog syndrome. In the same Kuwaiti Bedouin tribe from which the first family came, Teebi and Al Awadi (1991) observed another sibship with 2 affected males who were double first cousins to the first reported cases. Moreover, they observed 3 other distantly related sibships with 9 affected members who all could be traced to a common ancestor. The consistent features were a triangular or elongated face, telecanthus or mild hypertelorism, wide palpebral fissures without ptosis, short stubby nose with anteverted nostrils, high arched and narrow palate, long, deep philtrum, wide mouth with protruding lower lip, posteriorly rotated ears with minor ear anomalies, long neck with sloping shoulders, small, broad hands with mild interdigital webbing and fifth finger clinodactyly, hyperextensible hand joints, and shawl scrotum. Short stature was confirmed in 10 cases, while the heights of the other 6 were between the 10th and 25th percentile for age. None of the 16 cases showed physical disability or mental retardation. *FIELD* RF 1. Teebi, A. S.; Al Awadi, S. A.: Kuwait type faciodigitogenital syndrome. (Letter) J. Med. Genet. 28: 805, 1991. 2. Teebi, A. S.; Naguib, K. K.; Al-Awadi, S. A.; Al-Saleh, Q. A.: New autosomal recessive faciodigitogenital syndrome. J. Med. Genet. 25: 400-406, 1988. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : %227330;

Details

Origin ID

227330;

UMLS CUI

C1856871;

Automatic exact mappings (from CISMeF team)
- teebi naguib al awadi syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Autosomal recessive faciodigitogenital syndrome [ORDO Disease]
- Autosomal recessive faciodigitogenital syndrome (disorder) [SNOMED CT concept]
- faciodigitogenital syndrome, recessive [MeSH concept]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad palm [HPO term]
- Camptodactyly [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Deep philtrum [HPO term]
- Dental malocclusion [HPO term]
- Down-sloping shoulders [HPO term]
- Downslanted palpebral fissures [HPO term]
- Hearing impairment [HPO term]
- High nasal bridge [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperextensible hand joints [HPO term]
- Hypertelorism [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Long neck [HPO term]
- Long palpebral fissure [HPO term]
- Metatarsus adductus [HPO term]
- Microtia [HPO term]
- Narrow palate [HPO term]
- Pectus excavatum [HPO term]
- Pollakisuria [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nasal bridge [HPO term]
- Proportionate short stature [HPO term]
- Shawl scrotum [HPO term]
- Short foot [HPO term]
- Short nose [HPO term]
- Short stature, proportionate [HPO term]
- Sloping shoulders [HPO term]
- Small feet [HPO term]
- Syndactyly [HPO term]
- Triangular face [HPO term]
- Trismus [HPO term]
- Vertebral fusion [HPO term]
- Wide mouth [HPO term]
- Widow's peak [HPO term]
ORDO concept(s)
- Autosomal recessive faciodigitogenital syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive faciodigitogenital syndrome [ORDO Disease]
- Autosomal recessive faciodigitogenital syndrome (disorder) [SNOMED CT concept]
- faciodigitogenital syndrome, recessive [MeSH concept]
Validated automatic mappings to NTBT
- Aarskog syndrome [MeSH Supplementary Concept]

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