Robinow syndrome

(redirected from Robinow syndrome, autosomal dominant)

Rob·i·now syn·drome

(rob'i-now), [MIM*180700]
a skeletal dysplasia characterized by bulging forehead, hypertelorism, depressed nasal bridge (so-called fetal face), wide mouth, acromesomelic shortening of limbs, hemivertebrae, and hypoplastic genitalia; there is also an autosomal recessive form [MIM*268310].
See also: fetal face syndrome.
Synonym(s): Robinow dwarfism

Robinow syndrome

An autosomal dominant disorder (OMIM:180700) characterised by short-limb dwarfism, costovertebral segmentation defects and malformations of the head, face and external genitalia.

Molecular pathology
Defects of WNT5A, which encodes a signalling molecule that regulates cell fate and patterning during embryogenesis, cause Robinow syndrome.

Rob·i·now syn·drome

(rob'i-now sin'drōm)
Skeletal dysplasia characterized by bulging forehead, hypertelorism, depressed nasal bridge (so-called fetal face), wide mouth, acromesomelic shortening of limbs, hemivertebrae, and hypoplastic genitalia; there is also an autosomal recessive form.

Robinow,

Meinhard, U.S. physician, 1909–.
Robinow dwarfism - Synonym(s): Robinow syndrome
Robinow mesomelic dysplasia
Robinow syndrome - dwarfism associated with several facial anomalies. Synonym(s): fetal face syndrome; Robinow dwarfism

Rob·i·now syn·drome

(rob'i-now sin'drōm) [MIM*180700]
Skeletal dysplasia characterized by bulging forehead, hypertelorism, depressed nasal bridge (so-called fetal face), and wide mouth.