Robinow syndrome


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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.
References in periodicals archive ?
A case report on autosomal recessive robinow syndrome. Eur J Paediatr Dent 2009;10(3):147-150.
Robinow syndrome, cockayne syndrome, and pfeiffer syndrome: An overview of physical, neurological, and oral characteristics.
Craniofacial pattern similarities and additional orofacial findings in siblings with the robinow syndrome. J Craniofac Genet Dev Biol 1988;8(1):63-73.
Robinow syndrome: Report of two cases and review of the literature.
DRS: Dominant Robinow Syndrome RRS: Recessive Robinow Syndrome
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A 2007;143:320-5.
Robinow syndrome: report of two patients and review of literature.
(8.) Eronat N, Cogulu D, Ozkinay F.A case report on autosomal recessive Robinow syndrome. Eur J Paediatr Dent 2009;10:147-50.
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.
(11.) Patton MA, Afzal AR, Robinow syndrome. J Med Genet 2002;39:305-10.