Preferred Label : Radioulnar synostosis, unilateral, with developmental retardation and hypotonia;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Der Kaloustian et al. (1992) described a brother and sister born to nonconsanguineous
French-Canadian parents who presented with the same characteristic facial appearance,
unilateral radioulnar synostosis, generalized hypotonia, and developmental retardation.
Both had dolichocephaly with macrocephaly, a long narrow face, and a prominent nose.
The radioulnar synostosis was of type 2, i.e., the fusion was located just distal
to the proximal radial epiphysis and was associated with congenital dislocation of
the radial head. See 179300. Koc et al. (2008) reported 2 Turkish sibs, born of consanguineous
parents, with clinical features similar to those described by Der Kaloustian et al.
(1992). The proband was a 12-year-old girl with hypotonia and bilateral type 2 radioulnar
synostosis apparent after birth. She had speech delay, delayed motor milestones, and
an IQ of 63. Dysmorphic features included sloping forehead, deep-set eyes, wide nasal
root and bridge, prominent columella, short philtrum, narrow palate, prognathism,
dimples on the shoulders, cafe au lait spot, mild scoliosis, and lumbar lordosis.
She also had long hyperextensible fingers and long toes. Echocardiography showed mild
mitral valve prolapse and tricuspid deficiency. Her 10-year-old brother had mental
retardation, mild hearing loss, and similar dysmorphic findings as his sister. However,
he did not have radioulnar synostosis, which Koc et al. (2008) suggested may be a
variable feature of this syndrome. *FIELD* RF 1. Der Kaloustian, V. M.; McIntosh,
N.; Silver, K.; Blaichman, S.; Halal, F.: Unilateral radio-ulnar synostosis, generalized
hypotonia, developmental retardation, and a characteristic facial appearance in sibs:
a new syndrome. Am. J. Med. Genet. 43: 942-945, 1992. 2. Koc, A.; Kaymak, A. O.; Karaer,
K.; Ergun, M. A.; Aksu, T.; Percin, E. F.: A case with bilateral radio-ulnar synostosis.
Genet. Counsel. 19: 193-198, 2008. *FIELD* CS Limbs: Radioulnar synostosis; Congenital
radial head dislocation Neuro: Generalized hypotonia; Developmental retardation;
Inheritance : Autosomal recessive;
Prefixed ID : 266255;
Origin ID : 266255;
UMLS CUI : C1849470;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
