Wolf-hirschhorn syndrome

Preferred Label : Wolf-hirschhorn syndrome;

Symbol : WHS;

CISMeF acronym : PRDS; WHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pitt syndrome; PRDS; Wittwer syndrome; Pitt-rogers-danks syndrome; Chromosome 4p16.3 deletion syndrome;

Description : Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).;

Inheritance : Isolated cases;

Molecular basis : Due to hemizygous deletion of 4p16.3;

Laboratory abnormalities : Hemizygous deletion at 4p16.3;

Prefixed ID : #194190;

Détails

Origin ID

194190;

UMLS CUI

C1956097;

Automatic exact mappings (from CISMeF team)
- NSD2 wt Allele [NCIt concept]
- Pitt-Rogers-Danks syndrome [ICD-11 More detail]
- Pitt-Rogers-Danks syndrome [PASCAL descriptor]
- Pitt-Rogers-Danks syndrome [MeSH concept]
- Pitt-Rogers-Danks syndrome [ORDO Disease]
- Watt Hour [NCIt concept]
- Wittwer syndrome [MeSH concept]
- wittwer syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- 4p partial monosomy syndrome [SNOMED Notion]
- 4p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Wolf Hirchhorn Syndrome [Disease (Nov.)]
- Wolf Hirschhorn syndrome (disorder) [SNOMED CT concept]
- Wolf-Hirschhorn Syndrome [NCIt concept]
- Wolf-Hirschhorn syndrome [PASCAL descriptor]
- Wolf-Hirschhorn syndrome [DO Concept]
- Wolf-Hirschhorn syndrome [ICD-11 More detail]
- Wolf-Hirschhorn syndrome [MedDRA Preferred Term]
- Wolf-Hirschhorn syndrome [MeSH concept]
- Wolf-Hirschhorn syndrome [ORDO Disease]
- chromosome 4 short arm deletion [MeSH Supplementary Concept]
- wolf-hirschhorn syndrome [MeSH Descriptor]
DO Cross reference
- Wolf-Hirschhorn syndrome [DO Concept]
False automatic mappings
- 4p16.3 duplication [ICD-11 More detail]
HPO term(s)
- Abnormal form of the vertebral bodies [HPO term]
- Abnormal sternal ossification [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the genitourinary system [HPO term]
- Abnormality of the pinna [HPO term]
- Absent septum pellucidum [HPO term]
- Accessory spleen [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aplasia cutis congenita of scalp [HPO term]
- Aplasia of the uterus [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Biliary tract abnormality [HPO term]
- Cavum septum pellucidum [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Conductive hearing impairment [HPO term]
- Convex nasal ridge [HPO term]
- Craniofacial asymmetry [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Decreased muscle mass [HPO term]
- Delayed skeletal maturation [HPO term]
- Downturned corners of mouth [HPO term]
- EEG abnormality [HPO term]
- Ectopia pupillae [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Genitourinary tract malformation [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hemangioma [HPO term]
- High forehead [HPO term]
- Highly arched eyebrow [HPO term]
- Highly arched eyebrows [HPO term]
- Hip dislocation [HPO term]
- Hip dysplasia [HPO term]
- Hydrocephalus [HPO term]
- Hyperconvex fingernails [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Hypospadias [HPO term]
- Immunodeficiency [HPO term]
- Intellectual disability, severe [HPO term]
- Intrauterine growth retardation [HPO term]
- Iris coloboma [HPO term]
- Kyphosis [HPO term]
- Low posterior hairline [HPO term]
- Malrotation of small bowel [HPO term]
- Metatarsus adductus [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Morphological abnormality of the central nervous system [HPO term]
- Morphological central nervous system abnormality [HPO term]
- Nystagmus [HPO term]
- Oral cleft [HPO term]
- Periventricular cysts [HPO term]
- Poorly formed pinnae [HPO term]
- Preauricular pit [HPO term]
- Preauricular skin tag [HPO term]
- Preaxial foot polydactyly [HPO term]
- Preaxial hand polydactyly [HPO term]
- Precocious puberty [HPO term]
- Prominent glabella [HPO term]
- Proptosis [HPO term]
- Pseudoepiphyses of the metacarpals [HPO term]
- Ptosis [HPO term]
- Radioulnar synostosis [HPO term]
- Rib fusion [HPO term]
- Rib segmentation abnormalities [HPO term]
- Rieger anomaly [HPO term]
- Sacral dimple [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Severe growth retardation [HPO term]
- Severe postnatal growth retardation [HPO term]
- Short hallux [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Short upper lip [HPO term]
- Single transverse palmar crease [HPO term]
- Small for gestational age [HPO term]
- Split hand [HPO term]
- Sporadic [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Stereotypical motor behaviors [HPO term]
- Sternal ossification center abnormalities [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Tethered cord [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Vertebral fusion [HPO term]
- Webbed neck [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Pitt-Rogers-Danks syndrome [ORDO Disease]
- Wolf-Hirschhorn syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 4p partial monosomy syndrome [SNOMED Notion]
- 4p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Deletion of short arm of chromosome 4 [ICD-10 Sub-category]
- Wolf Hirchhorn Syndrome [Disease (Nov.)]
- Wolf Hirschhorn syndrome (disorder) [SNOMED CT concept]
- Wolf-Hirschhorn Syndrome [NCIt concept]
- Wolf-Hirschhorn syndrome [ORDO Disease]
- Wolf-Hirschhorn syndrome [MeSH concept]
- Wolf-Hirschhorn syndrome [MedDRA Preferred Term]
- Wolf-Hirschhorn syndrome [DO Concept]
- Wolf-Hirschhorn syndrome [PASCAL descriptor]
- Wolf-Hirschhorn syndrome [ICD-11 More detail]
- wolf-hirschhorn syndrome [MeSH Descriptor]

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