Disease: Robinow Syndrome, Autosomal Recessive

Name Robinow Syndrome, Autosomal Recessive

Synonyms COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA, FORMERLY , COVESDEM SYNDROME, FORMERLY | ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS, INCLUDED , ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY, INCLUDED

Classification bone, developmental, genetic

Phenotypes Absent uvula; Anteverted nares; Aplasia/Hypoplasia involving the metacarpal bones; Autosomal recessive inheritance; Bifid distal phalanx of toe; Bifid tongue; Brachydactyly; Broad thumb; Broad toe; Clinodactyly; Clitoral hypoplasia; Cryptorchidism; Delayed cranial suture closure; Delayed eruption of permanent teeth; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Downslanted palpebral fissures; Duplication of the distal phalanx of hand; Flat face; Frontal bossing; Gingival overgrowth; Global developmental delay; Hydronephrosis; Hypertelorism; Hypoplastic labia majora; Hypoplastic sacrum; Inguinal hernia; Intellectual disability; Long eyelashes; Long palpebral fissure; Long philtrum; Low-set ears; Macrocephaly; Macroglossia; Malar flattening; Mesomelia; Micrognathia; Micropenis; Midface retrusion; Missing ribs; Nail dysplasia; Nevus flammeus; Pectus excavatum; Posteriorly rotated ears; Proptosis; Radial deviation of finger; Renal duplication; Retrognathia; Rib fusion; Right ventricular outlet tract obstruction; Scoliosis; Short middle phalanx of the 5th finger; Short neck; Short nose; Short palm; Short stature; Small hand; Thin upper lip vermilion; Thoracic hemivertebrae; Thoracolumbar scoliosis; Triangular mouth; Umbilical hernia; Vertebral fusion; Wide anterior fontanel; Wide nasal bridge

Associated Genes ROR2 (Withdrawn symbols: BDB, BDB1, NTRKR2 )

Mouse Orthologs Ror2 (Withdrawn symbols: Ntrkr2 )

Source OMIM:268310 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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