Preferred Label : Blepharophimosis with ptosis, syndactyly, and short stature;
Type : Phenotype or locus, molecular basis unknown;
Description : In a family of Yemenite Jewish extraction, Frydman et al. (1992) described an autosomal
recessive syndrome of blepharophimosis and ptosis with weakness of extraocular and
frontal muscles. Prognathism, synophrys, and thick eyebrows added to a typical facial
appearance. Additional findings included short stature and syndactyly of toes 2 and
3. Borderline mental retardation and anosmia was found in 1 patient. The clinical
features and particularly the mode of inheritance distinguished this syndrome from
other blepharophimosis-ptosis syndromes (e.g., 110100). Madasseri et al. (2003) described
2 brothers with congenital ptosis and esotropia, 1 of whom also had bilateral accessory
nipples. The constellation of clinical features showed significant overlap with the
pedigree reported by Frydman et al. (1992), although it lacked the blepharophimosis,
short stature, and syndactyly. Madasseri et al. (2003) stated that these 2 brothers
might share the same condition reported by Frydman et al. (1992) or might represent
a 'new,' possibly X-linked, phenotype of congenital ptosis with esotropia. *FIELD*
RF 1. Frydman, M.; Cohen, H. A.; Karmon, G.; Savir, H.: Autosomal recessive blepharophimosis,
ptosis, V-esotropia, syndactyly and short stature. Clin. Genet. 41: 57-61, 1992. 2.
Madasseri, A. L.; Mullaney, P.; Costigan, C.; Reardon, W.: Congenital ptosis with
esotropia in brothers. Clin. Dysmorph. 12: 115-117, 2003. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : %210745;
Origin ID : 210745;
UMLS CUI : C1859432;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
