Preferred Label : Faciocardiomelic dysplasia, lethal;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Cantu et al. (1975) reported 3 affected males in a sibship of 13, from second-cousin
parents, who had what the authors termed lethal faciocardiomelic dysplasia. They were
all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia
of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia
of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space
between toes I and II, and severe cardiac malformation which may have been responsible
for death of all 3 in the first week or so of life. *FIELD* RF 1. Cantu, J.-M.; Hernandez,
A.; Ramirez, J.; Bernal, M.; Rubio, G.; Urrusti, J.; Franco-Vazquez, S.: Lethal faciocardiomelic
dysplasia--a new autosomal recessive disorder. Birth Defects Orig. Art. Ser. XI(5):
91-98, 1975. *FIELD* CS Growth: Low birth weight; Neonatal death;
Inheritance : Autosomal recessive;
Prefixed ID : 227270;
Origin ID : 227270;
UMLS CUI : C1856891;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
