RRS2
MCID: RBN023
MIFTS: 24
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Robinow Syndrome, Autosomal Recessive 2 (RRS2)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases
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MalaCards integrated aliases for Robinow Syndrome, Autosomal Recessive 2:Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on 3 affected girls from 2 unrelated families (last curated august 2019) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Reproductive diseases Nephrological diseases Smell/Taste diseases |
UniProtKB/Swiss-Prot :
73
Robinow syndrome, autosomal recessive 2: A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet.
MalaCards based summary : Robinow Syndrome, Autosomal Recessive 2, is also known as rrs2. An important gene associated with Robinow Syndrome, Autosomal Recessive 2 is NXN (Nucleoredoxin). Affiliated tissues include eye, and related phenotypes are global developmental delay and gingival overgrowth OMIM : 56 Autosomal recessive Robinow syndrome-2 is a skeletal dysplasia characterized by postnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth. Variable other congenital anomalies may be present, including omphalocele, ventral hernia, and cardiac anomalies (White et al., 2018). For a discussion of genetic heterogeneity of autosomal recessive Robinow syndrome, see RRS1 (268310). (618529) |
Diseases in the Robinow Syndrome family: |
Human phenotypes related to Robinow Syndrome, Autosomal Recessive 2:31 (show all 29)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618529 |
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MalaCards organs/tissues related to Robinow Syndrome, Autosomal Recessive 2:40
Eye
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Articles related to Robinow Syndrome, Autosomal Recessive 2:(show all 16)
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ClinVar genetic disease variations for Robinow Syndrome, Autosomal Recessive 2:6
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Search
GEO
for disease gene expression data for Robinow Syndrome, Autosomal Recessive 2.
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