Wiedemann-rautenstrauch syndrome

Preferred Label : Wiedemann-rautenstrauch syndrome;

Symbol : WDRTS;

CISMeF acronym : WDRTS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Progeroid syndrome, neonatal;

Description : The neonatal progeroid syndrome, also known as Wiedemann-Rautenstrauch syndrome, is a rare autosomal recessive disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, variable mental impairment, and death in childhood (summary by Toriello, 1990).;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Increased triglycerides (less common);

Prefixed ID : #264090;

Détails

Origin ID

264090;

UMLS CUI

C0406586;

Currated CISMeF NLP mapping
- Neonatal Progeroid Syndrome [NCIt concept]
- Neonatal pseudo-hydrocephalic progeroid syndrome (disorder) [SNOMED CT concept]
- Progeroid syndrome, neonatal [MeSH concept]
- Wiedemann-Rautenstrauch progeroid syndrome [ICD-11 More detail]
- Wiedemann-Rautenstrauch syndrome [ORDO Disease]
- neonatal progeroid syndrome [Disease (Nov.)]
- progeroid syndrome, neonatal [MeSH Supplementary Concept]
Genes related to phenotype
- Polymerase III, rna, subunit a [OMIM gene]
HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Absence of subcutaneous fat [HPO term]
- Absent earlobe [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aplasia/Hypoplasia of the earlobes [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Broad eyebrow [HPO term]
- Chiari malformation [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Deeply set eye [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Delayed eruption of teeth [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Dysphagia [HPO term]
- Ectropion [HPO term]
- Entropion [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Generalized amyotrophy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Gynecomastia [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypodontia [HPO term]
- Hypoplastic ilia [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Hypotrichosis [HPO term]
- Increased serum testosterone level [HPO term]
- Intellectual disability [HPO term]
- Intention tremor [HPO term]
- Intrauterine growth retardation [HPO term]
- Large hands [HPO term]
- Lipoatrophy [HPO term]
- Long fingers [HPO term]
- Long foot [HPO term]
- Long penis [HPO term]
- Long toe [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Muscle weakness [HPO term]
- Narrow mouth [HPO term]
- Narrow nasal ridge [HPO term]
- Natal tooth [HPO term]
- Nystagmus [HPO term]
- Parietal bossing [HPO term]
- Pointed chin [HPO term]
- Premature skin wrinkling [HPO term]
- Prenatal growth deficiency [HPO term]
- Prominent scalp veins [HPO term]
- Recurrent respiratory infections [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Scoliosis [HPO term]
- Short femur [HPO term]
- Short humerus [HPO term]
- Short stature [HPO term]
- Small nail [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Sparse scalp hair [HPO term]
- Sudanophilic leukodystrophy [HPO term]
- Thin ribs [HPO term]
- Thin skin [HPO term]
- Triangular face [HPO term]
- Truncal ataxia [HPO term]
- Upslanted palpebral fissure [HPO term]
- Widely patent fontanelles and sutures [HPO term]
ORDO concept(s)
- Wiedemann-Rautenstrauch syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neonatal Progeroid Syndrome [NCIt concept]
- Neonatal pseudo-hydrocephalic progeroid syndrome (disorder) [SNOMED CT concept]
- Progeroid syndrome, neonatal [MeSH concept]
- Wiedemann-Rautenstrauch progeroid syndrome [ICD-11 More detail]
- Wiedemann-Rautenstrauch syndrome [ORDO Disease]
- neonatal progeroid syndrome [Disease (Nov.)]
- progeroid syndrome, neonatal [MeSH Supplementary Concept]

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