Frank-ter haar syndrome

Preferred Label : Frank-ter haar syndrome;

Symbol : FTHS;

CISMeF acronym : FTHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Melnick-needles syndrome, autosomal recessive; Borrone dermatocardioskeletal syndrome; Ter haar syndrome;

Description : The primary characteristics of the Frank-ter Haar syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs (summary by Maas et al., 2004).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SH3 and PX domains-containing protein 2B gene (SH3PXD2B, 613293.0001);

Prefixed ID : #249420;

Details

Origin ID

249420;

UMLS CUI

C1855305;

Automatic exact mappings (from CISMeF team)
- Frank-Ter Haar syndrome [DO Concept]
- Frank-ter Haar syndrome [ICD-11 More detail]
- SH3PXD2B wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Frank-Ter Haar syndrome [ORDO Disease]
- Frank-Ter Haar syndrome (disorder) [SNOMED CT concept]
- Frank-ter Haar syndrome [Disease (Nov.)]
- Ter Haar syndrome [MeSH concept]
- ter haar syndrome [MeSH Supplementary Concept]
DO Cross reference
- Frank-Ter Haar syndrome [DO Concept]
Genes related to phenotype
- Sh3 and px domains-containing protein 2b [OMIM gene]
HPO term(s)
- Abnormally large globe [HPO term]
- Acne [HPO term]
- Anterior concavity of thoracic vertebrae [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Bowing of the long bones [HPO term]
- Brachycephaly [HPO term]
- Broad alveolar ridges [HPO term]
- Broad clavicles [HPO term]
- Broad nasal tip [HPO term]
- Buphthalmos [HPO term]
- Cafe-au-lait spot [HPO term]
- Camptodactyly [HPO term]
- Coarse facial features [HPO term]
- Cortical irregularity [HPO term]
- Delayed cranial suture closure [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental glaucoma [HPO term]
- Double outlet right ventricle [HPO term]
- Downslanted palpebral fissures [HPO term]
- Enlarged cisterna magna [HPO term]
- Flared metaphysis [HPO term]
- Flat occiput [HPO term]
- Full cheeks [HPO term]
- Genu varus [HPO term]
- Gingival overgrowth [HPO term]
- Growth delay [HPO term]
- High palate [HPO term]
- Hip dysplasia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Kyphoscoliosis [HPO term]
- Kyphosis [HPO term]
- Low-set ears [HPO term]
- Megalocornea [HPO term]
- Metatarsus adductus [HPO term]
- Micrognathia [HPO term]
- Mitral valve prolapse [HPO term]
- Motor delay [HPO term]
- Neonatal onset [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Patent foramen ovale [HPO term]
- Pectus excavatum [HPO term]
- Prominent coccyx [HPO term]
- Prominent forehead [HPO term]
- Proptosis [HPO term]
- Protruding ear [HPO term]
- Redundant neck skin [HPO term]
- Secundum atrial septal defect [HPO term]
- Short long bone [HPO term]
- Short palm [HPO term]
- Short phalanx of finger [HPO term]
- Shortened bowed long bones [HPO term]
- Simple ear [HPO term]
- Talipes equinovarus [HPO term]
- Thin upper lip vermilion [HPO term]
- Ventricular septal defect [HPO term]
- Wide anterior fontanel [HPO term]
- Wide mouth [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Frank-Ter Haar syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Frank-Ter Haar syndrome [ORDO Disease]
- Frank-Ter Haar syndrome [DO Concept]
- Frank-Ter Haar syndrome (disorder) [SNOMED CT concept]
- Frank-ter Haar syndrome [Disease (Nov.)]
- Ter Haar syndrome [MeSH concept]
- ter haar syndrome [MeSH Supplementary Concept]

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