Restrictive Dermopathy, Lethal malady
Categories: Genetic diseases, Rare diseases, Fetal diseases, Skin diseases
Aliases & Descriptions for Restrictive Dermopathy, Lethal:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Skin diseases
ICD10: 30 29
Developmental anomalies during embryogenesis
UniProtKB/Swiss-Prot:69 Lethal tight skin contracture syndrome: Rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance.
MalaCards based summary: Restrictive Dermopathy, Lethal, also known as lethal tight skin contracture syndrome, is related to lethal restrictive dermopathy, lmna-related and lethal restrictive dermopathy, zmpste24-related, and has symptoms including narrow mouth, abnormality of the teeth and open mouth. An important gene associated with Restrictive Dermopathy, Lethal is ZMPSTE24 (Zinc Metallopeptidase STE24), and among its related pathways is Adipogenesis. Affiliated tissues include skin, bone and placenta, and related mouse phenotypes are adipose tissue and limbs/digits/tail.
Disease Ontology:11 A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has material basis in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
OMIM:51 Restrictive dermopathy is a rare, lethal genodermatosis with characteristic manifestations that are easily recognizable... (275210) more...
Wikipedia:70 Restrictive dermopathy is a rare, lethal autosomal recessive skin condition characterized by abnormal... more...
Human phenotypes related to Restrictive Dermopathy, Lethal:63 (show all 65)
Genetic tests related to Restrictive Dermopathy, Lethal:
MalaCards organs/tissues related to Restrictive Dermopathy, Lethal:35
Skin, Bone, Placenta, Lung, Eye, Adrenal gland
Clinvar genetic disease variations for Restrictive Dermopathy, Lethal:5
Search GEO for disease gene expression data for Restrictive Dermopathy, Lethal.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet