Restrictive dermopathy 1

Preferred Label : Restrictive dermopathy 1;

Symbol : RSDM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperkeratosis-contracture syndrome; Fetal hypokinesia sequence due to restrictive dermopathy; Tight skin contracture syndrome, lethal; Restrictive dermopathy 1, lethal;

Description : Restrictive dermopathy is a rare, lethal genodermatosis with characteristic manifestations that are easily recognizable at birth: thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs can include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life (summary by Smigiel et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zinc metalloproteinase STE24 gene (ZMPSTE24, 606480.0003); Caused by mutation in the lamin A/C gene (LMNA, 150330.0022);

Prefixed ID : #275210;

Détails

Origin ID

275210;

UMLS CUI

C5676878;

Currated CISMeF NLP mapping
- Lethal restrictive dermopathy [ICD-11 More detail]
- Lethal tight skin contracture syndrome (disorder) [SNOMED CT concept]
- Restrictive dermopathy [ORDO Disease]
- lethal restrictive dermopathy [DO Concept]
- tight skin contracture syndrome, lethal [MeSH concept]
- tight skin contracture syndrome, lethal [MeSH Supplementary Concept]
DO Cross reference
- lethal restrictive dermopathy [DO Concept]
Genes related to phenotype
- Zinc metalloproteinase ste24 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Absent eyelashes [HPO term]
- Adrenal hypoplasia [HPO term]
- Ankylosis [HPO term]
- Aplasia/Hypoplasia of the eyebrow [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Choanal atresia [HPO term]
- Congenital pseudoarthrosis of the clavicle [HPO term]
- Congenital vertical talus [HPO term]
- Decreased calvarial ossification [HPO term]
- Decreased fetal movement [HPO term]
- Dysplastic ears [HPO term]
- Entropion [HPO term]
- Epidermal hyperkeratosis [HPO term]
- Flexion contracture [HPO term]
- Heterogeneous [HPO term]
- Hydropic placenta [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Increased anterioposterior diameter of thorax [HPO term]
- Intrauterine growth retardation [HPO term]
- Kyphoscoliosis [HPO term]
- Large fontanelles [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Narrow nasal ridge [HPO term]
- Natal tooth [HPO term]
- Overtubulated long bones [HPO term]
- Patent ductus arteriosus [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Premature rupture of membranes [HPO term]
- Prominent superficial blood vessels [HPO term]
- Pulmonary hypoplasia [HPO term]
- Rocker bottom foot [HPO term]
- Short nail [HPO term]
- Short palpebral fissure [HPO term]
- Short umbilical cord [HPO term]
- Skin erosion [HPO term]
- Sparse eyelashes [HPO term]
- Sparse to absent eyelashes [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Submucous cleft hard palate [HPO term]
- Temporomandibular joint ankylosis [HPO term]
- Thin clavicles [HPO term]
- Ureteral duplication [HPO term]
ORDO concept(s)
- Restrictive dermopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lethal tight skin contracture syndrome (disorder) [SNOMED CT concept]
- Restrictive dermopathy [ORDO Disease]
- lethal restrictive dermopathy [DO Concept]
- tight skin contracture syndrome, lethal [MeSH Supplementary Concept]
- tight skin contracture syndrome, lethal [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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