Preferred Label : Palant cleft palate syndrome;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Palant et al. (1971) described 2 sisters with severe mental and motor retardation,
short stature, similar facial appearance (almond-shaped eyes with mongoloid slant,
bulbous nasal tip, prominent cupid-bow of upper lip), cleft palate, and similar limb
abnormalities (camptodactyly of fingers 4 and 5, firm nonbony prominences on the anteromedial
aspects of both wrists, etc.). Chromosomes were apparently normal. This is a type
of syndrome that could be due to a small chromosomal aberration or even a repeated
intrauterine insult. It is a type of syndrome that is difficult to categorize here
for later recovery. *FIELD* RF 1. Palant, D. I.; Feingold, M.; Berkman, M. D.: Unusual
facies, cleft palate, mental retardation, and limb abnormalities in siblings--a new
syndrome. J. Pediat. 78: 686-689, 1971. *FIELD* CS Neuro: Severe mental retardation;
Severe motor retardation Growth: Short stature;
Inheritance : Autosomal recessive;
Prefixed ID : 260150;
Origin ID : 260150;
UMLS CUI : C1850102;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
