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International Birth Defects Information Systems
Robinow Syndrome

International Birth Defects Information Systems



Robinow Syndrome


Topics: | Acral Dysostosis With Facial And Genital Abnormalities | Fetal Face Syndrome | Mesomelia | Robinow Dwarfism | Robinow Syndrome |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | Ukrainian |

Notes per Visitors  
... characterized by craniofacial abnormalities, genital hypoplasia, spinal cord malformations and skeletal dysplasia ... macrocephaly with a flat facial profile, hypertelorism and low set ears along with misshapen teeth and gums ... may manifest in the hands and feet as clinodactyly or brachydactyly ... spinal malformations, notably a tethered cord ... urinary incontinence ... lower extremity hypotonia ... scoliosis and vertebral fusion ... hypoplastic labia majora and clitoris ... cryptorchidism and micropenis ... gene responsible for Robinows is the ROR2 gene on Chromosome 9q22 ... ROR2 gene product is a protein thought to be involved in a signaling pathway responsible for bone and cartilage formation ... autosomal dominent form ... usually involves a new mutation (parents where not affected) and an autosomal recessive form which is rarer ...

Robinow Syndrome
Victor A. McKusick, OMIM, Johns Hopkins University, April 2, 2007
Visitor Comments [for Professionals mainly]
Robinow et al (1969) described a short stature syndrome in 6 generations of a family but with no instance of male to male transmission - Interorbital distance was increased and the teeth were malaligned - Achondroplasia was suggested; however, the spine and pelvic radiologic findings were nearly normal - Similarities to the Aarskog Scott syndrome (305400) were noteworthy - Friedman ((1985) described the distinctive umbilical changes of Aarskog syndrome, Rieger syndrome (180500), and Robinow syndrome.

Robinow Syndrome, Recessive Form
Victor A. McKusick, OMIM, Johns Hopkins University, May 30, 2008
Visitor Comments [for Professionals mainly]
A recessive form of Robinow syndrome, usually a dominant (180700), is suggested by the reports of Wadia (1978, 1979) and Wadlington et al (1973) - Aksit et al (1997) noted that of the 80 cases of Robinow syndrome reported in the literature up to that time, 19 were born to Turkish couples, as were the 4 cases they reported.

Robinow Syndrome Foundation
Visitor Comments [Support Group]
General Information - Around 1959, Dr. Meinhard Robinow identified a new medical syndrome - Named it "Fetal Face" Syndrome - The "Robinow Syndrome Foundation" (United States) was established, to continue locating and documenting new families - Medical Manifestations - Mild to moderate short stature (dwarfism) - Short lower arms (mesomelic brachymelia - Small hands with clindodactyly and brachymesophalangy or achydactyly - of fifth finger (short fingers) - Small feet - Vertebral segmentation defects - Multiple rib anomalies - Hemivertebrae, vertebral fusions - Flat facial profile with larger head - Bulging forehead - Widely spaced eyes - Short, upturned nose - Anteverted nostrils - Flat nasal bridge - Wide triangular mouth - long philtrum - Horizontal upper lip - Short palate - Misaligned teeth - Gum hypertrophy - Hypoplastic, or shortened, S-shaped lower eyelids - Ears are sometimes cup-shaped - Underdeveloped penis - Clitoris and labia majora are underdeveloped - Types - Dominant (most common) - Dominant version have most of the medical manifestations listed - Recessive (the rarer of the two) - Parents carry the recessive gene - Children born with the recessive version have more marked dwarfism - Recessive cases appear to have more of the skeletal abnormalities - Intelligence is normal in most cases - Psychosocial problems related to appearance are an issue - Normal to borderline adult height in dominant forms - Recessive forms will have more marked dwarfism - Fertility and reproduction have been documented in females - Males with the dominant form have produced offspring - Procreation in males with the recessive type has not yet been documented - Scoliosis is progressive and should be monitored for treatment - In Czechoslovakia - the condition is not rare among the gypsy population - Diagnosis is difficult because Robinow Syndrome presents differently in each person - Differentiate it from other syndromes (Aarskog, Hurler, and other types of micropenis, achondroplasia, and pseudohypoparathyroidism - Taken mostly from the summary of clinical features in Robinow Syndrome (Butler and Wadlington).

Robinow Syndrome Foundation
Panel of photographs.

Robinow Syndrome
NORD, April 9, 2007

Robinow syndrome and other mesomelic dysplasias
I.B.I.S. Birth Defects, October 19, 2002
Visitor Comments [Ukrainian]
A fact sheet for specialists ... Dyschondrosteosis ... Mesomelic Dysplasia, Langer type ... Mesomelic Dysplasia, Nivergelt type ... Mesomelic Dysplasia, Reinhardt-Pfeiffer type ... Mesomelic Dysplasia, Werner type ... Robinow syndrome ... Acrodysostosis ... Acromesomelic dysplasia ... Clinical features ... Etiology ... OMIM number ...

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Last Updated: 2009/03/09

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American Medical Association