Phelan-mcdermid syndrome

Preferred Label : Phelan-mcdermid syndrome;

Symbol : PHMDS;

CISMeF acronym : PHMDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 22q13.3 deletion syndrome; Telomeric 22q13 monosomy syndrome;

Description : Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see 209850), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SH3 and multiple ankyrin repeat domains 3 gene (SHANK3, 606230.0001);

Prefixed ID : #606232;

Details

Origin ID

606232;

UMLS CUI

C1853490;

Automatic exact mappings (from CISMeF team)
- Phelan-McDermid syndrome [MedDRA Preferred Term]
- Telomeric 22q13 monosomy syndrome [MeSH concept]
Currated CISMeF NLP mapping
- 22q13 deletion [ICD-11 More detail]
- 22q13.3 deletion syndrome (disorder) [SNOMED CT concept]
- Monosomy 22q13.3 [ORDO Disease]
- Phelan-McDermid Syndrome [NCIt concept]
- Phelan-McDermid syndrome [DO Concept]
- chromosome 22q13 deletion syndrome [Disease (Nov.)]
- del(22q13) [NCIt concept]
- telomeric 22q13 monosomy syndrome [MeSH Supplementary Concept]
DO Cross reference
- Phelan-McDermid syndrome [DO Concept]
Genes related to phenotype
- Sh3 and multiple ankyrin repeat domains 3 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Abnormal periventricular white matter morphology [HPO term]
- Abnormality of the kidney [HPO term]
- Aggressive behavior [HPO term]
- Arachnoid cyst [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Broad-based gait [HPO term]
- Bruxism [HPO term]
- Bulbous nose [HPO term]
- Cellulitis [HPO term]
- Cerebral visual impairment [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Concave nasal ridge [HPO term]
- Deeply set eye [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed speech and language development [HPO term]
- Dental malocclusion [HPO term]
- Dolichocephaly [HPO term]
- Epicanthus [HPO term]
- Episodic vomiting [HPO term]
- Feeding difficulties [HPO term]
- Full cheeks [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Heat intolerance [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperorality [HPO term]
- Hypertelorism [HPO term]
- Hypohidrosis [HPO term]
- Hypoplastic toenails [HPO term]
- Hyporeflexia [HPO term]
- Impaired pain sensation [HPO term]
- Impaired social interactions [HPO term]
- Intellectual disability, moderate [HPO term]
- Joint hypermobility [HPO term]
- Large hands [HPO term]
- Large, prominent ears [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Lymphedema [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Neonatal hypotonia [HPO term]
- Normal to tall stature [HPO term]
- Palpebral edema [HPO term]
- Patent ductus arteriosus [HPO term]
- Pointed chin [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Poor eye contact [HPO term]
- Prominent supraorbital ridges [HPO term]
- Protruding ear [HPO term]
- Ptosis [HPO term]
- Recurrent infections [HPO term]
- Sacral dimple [HPO term]
- Seizure [HPO term]
- Short chin [HPO term]
- Sleep disturbance [HPO term]
- Sporadic [HPO term]
- Stereotypical motor behaviors [HPO term]
- Strabismus [HPO term]
- Tall stature [HPO term]
- Thick eyebrow [HPO term]
- Toenail dysplasia [HPO term]
- Tongue thrusting [HPO term]
- Unsteady gait [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide nasal bridge [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Monosomy 22q13.3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 22q13.3 deletion syndrome (disorder) [SNOMED CT concept]
- Monosomy 22q13.3 [ORDO Disease]
- Phelan-McDermid Syndrome [NCIt concept]
- Phelan-McDermid syndrome [MedDRA Preferred Term]
- telomeric 22q13 monosomy syndrome [MeSH Supplementary Concept]

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