Kniest Dysplasia (KD)

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Disease Ontology 12 DOID:0080045 OMIM 56 156550 KEGG 36 H02070 MeSH 43 C537207 MESH via Orphanet 44 C537207 ICD10 via Orphanet 33 Q77.7

UMLS via Orphanet 72 C0265279 Orphanet 58 ORPHA485 MedGen 41 C0265279 SNOMED-CT via HPO 68 103276001 105985007 111266001 11296007 11934000 128306009 15188001 157265008 18265008 193570009 202283002 22325002 225655006 230145002 23986001 240190009 247053007 249670005 249710008 263681008 267036007 271825005 29555009 32958008 343087000 3639002 396232000 396275006 396347007 414564002 42059000 44057004 57190000 61960001 63567004 64217002 74370006 74820003 74969002 84445001 87979003 95427009 95434006 95828007 more UMLS 71 C0265279 C3711158

Genetics Home Reference : ²⁵ Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. Affected individuals have abnormally large joints that can cause pain and restrict movement, limiting physical activity. These joint problems can also lead to arthritis. Other skeletal features may include a rounded upper back that also curves to the side (kyphoscoliosis), severely flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and an inward- and upward-turning foot (clubfoot). Individuals with Kniest dysplasia have a round, flat face with bulging and wide-set eyes. Some affected infants are born with an opening in the roof of the mouth called a cleft palate. Infants may also have breathing problems due to weakness of the windpipe. Severe nearsightedness (myopia) and other eye problems are common in Kniest dysplasia. Some eye problems, such as tearing of the back lining of the eye (retinal detachment), can lead to blindness. Hearing loss resulting from recurrent ear infections is also possible.

MalaCards based summary : Kniest Dysplasia, also known as metatropic dwarfism, type ii, is related to tracheomalacia and vitreoretinal degeneration, and has symptoms including large joints, wide set eyes and round flat face. An important gene associated with Kniest Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include bone, eye and spinal cord, and related phenotypes are depressed nasal bridge and joint stiffness

Disease Ontology : ¹² An osteochondrodysplasia that has material basis in a mutation in the COL2A1 gene which results in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has symptom large joints, has symptom wide set eyes, has symptom round flat face.

NIH Rare Diseases : ⁵² Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. It is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene . This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

OMIM : ⁵⁶ Kniest dysplasia is characterized by skeletal and craniofacial anomalies. Skeletal anomalies include disproportionate dwarfism, a short trunk and small pelvis, kyphoscoliosis, short limbs, and prominent joints and premature osteoarthritis that restrict movement. Craniofacial manifestations include midface hypoplasia, cleft palate, early-onset myopia, retinal detachment, and hearing loss. The phenotype is severe in some patients and mild in others. There are distinct radiographic changes including coronal clefts of vertebrae and dumbbell-shaped femora. The chondrooseous morphology is pathognomonic with perilacunar 'foaminess' and sparse, aggregated collagen fibrils resulting in an interterritorial matrix with a 'Swiss-cheese' appearance (summary by Wilkin et al., 1999). (156550)

KEGG : ³⁶ Kniest dysplasia is an autosomal dominant chondrodysplasia that results from mutations in the type II collagen gene, COL2A1. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.

UniProtKB/Swiss-Prot : ⁷³ Kniest dysplasia: Moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.

Wikipedia : ⁷⁴ Kniest dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12.... more...

Clinical features from OMIM:

156550

Search NIH Clinical Center for Kniest Dysplasia

Search GEO for disease gene expression data for Kniest Dysplasia.