Preferred Label : Facial dysmorphism with multiple malformations;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : In 2 female fetuses born of first-cousin Pakistani parents, Thakker and Donnai (1991)
described a syndrome of facial dysmorphism and multiple anomalies. The first fetus
was delivered after therapeutic termination at 26 weeks' gestation for multiple structural
abnormalities identified on ultrasound scanning. The palpebral fissures were long,
downward slanting and widely separated; the nose was short and bulbous tipped; the
mouth was small with downturned corners; and the neck was short and webbed. Autopsy
showed dilatation of the ventricular system, Klippel-Feil anomaly, transposition of
the great vessels with ventricular septal defect, and very short esophagus with intrathoracic
stomach, small intestine, spleen, and pancreas. The umbilical cord had 4 vessels.
The second affected sib was liveborn at 36 weeks' gestation. She had identical facial
features, anal atresia associated with rectovaginal fistula, hemivertebra, agenesis
of the corpus callosum, and tetralogy of Fallot. She died at age 53 days. Necropsy
limited to a muscle biopsy showed uniform muscle atrophy compatible with a neurogenic
origin. *FIELD* RF 1. Thakker, Y.; Donnai, D.: A new recessive syndrome of unusual
facies and multiple structural abnormalities. J. Med. Genet. 28: 633-635, 1991. *FIELD*
CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 227255;
Origin ID : 227255;
UMLS CUI : C1856892;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
