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.
Mississauga, ON CAN L5K 1G6 (905) 822-0733 (voice/fax) 1,2,3,4,9 FETAL FACE SYNDROME See: Robinow Syndrome FETAL IRITIS SYNDROME See: Norrie Disease FG SYNDROME See also: Opitz Syndrome FG Syndrome Family Alliance, Inc.
com 2,3,4 FETAL FACE SYNDROME See: Robinow Syndrome FETAL IRITIS SYNDROME See: Norrie Disease FIBROMYALGIA See: Arthritis FIBROUS ANKYLOSIS OF MULTIPLE JOINTS See: Arthrogryposis Multiplex Congenita FIBROUS DYSPLASIA, MONOSTOTIC See: McCune-Albright Syndrome FIBROUS DYSPLASIA, POLYOSTOTIC See: McCune-Albright Syndrome FIBULAR HEMIMELIA See: Limb Disorders FIRST AND SECOND BRANCHIAL ARCH SYNDROME See: Goldenhar Syndrome FISCHER SYNDROME See: Guillain-Barre Syndrome FISCHER-JACOBSEN-CLOUSTON SYNDROME See: Ectodermal Dysplasias FOCAL DERMAL HYPOPLASIA (FDH) SYNDROME See: Craniofacial Disorders; Ectodermal Dysplasias; Hearing Impairments FOLATE METABOLISM; INBORN ERROR OF See: Cobalamin (B12) Defiency FOOD ALLERGY See also: Asthma & Allergy The Food Allergy Network 10400 Eaton PI.