ORPHA:48652
Phelan-McDermid syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Phelan-McDermid syndrome | |
| fr | Syndrome de Phelan-McDermid | |
| de | Phelan-McDermid-Syndrom | Deletion 22q13.3 · Monosomie 22q13 |
| es | Síndrome de Phelan-McDermid | |
| it | Sindrome di Phelan-McDermid | |
| nl | Syndroom van Phelan-McDermid | |
| pt | Síndrome Phelan-McDermid | |
| pl | Monosomia 22q13 | Delecja 22q13 · Zespół Phelan i McDermid |
| cs | Phelan-McDermidové syndrom | Phelanové-McDermidové syndrom |
| uk | Синдром Фелана-Макдерміда | |
| zh | 22q13.3单体 | Phelan-McDermid综合征 |
| tr | Monozomi 22q13.3 | 22q13.3 delesyon · Phelan-McDermid sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606232 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.NY | NTBT | index | validated |
| MONDO | 11652 | E | validated | |
| MeSH | C536801 | E | validated | |
| GARD | 10130 | E | validated | |
| MedDRA | 10082417 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:568047Disorder with multisystemic involvement and primary lymphedema
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SHANK3 | ORPHA:662172Phelan-McDermid syndrome due to SHANK3 mutation | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14294 | ENSG00000251322 | 606230 | 22q13.33 | SH3 and multiple ankyrin repeat domains 3 | 30537371[PMID]_20385823[PMID] |
| SHANK3 | ORPHA:662169Phelan-McDermid syndrome due to 22q13.3 deletion | Role in the phenotype of | Assessed | HGNC:14294 | ENSG00000251322 | 606230 | 22q13.33 | SH3 and multiple ankyrin repeat domains 3 | 21841781[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
51 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0003763 | Bruxism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0007328 | Impaired pain sensation | |
| HP:0000400 | Macrotia | |
| HP:0001319 | Neonatal hypotonia | |
| Frequent (79-30%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0000414 | Bulbous nose | |
| HP:0000490 | Deeply set eye | |
| HP:0000268 | Dolichocephaly | |
| HP:0011968 | Feeding difficulties | |
| HP:0000293 | Full cheeks | |
| HP:0000752 | Hyperactivity | |
| HP:0000966 | Hypohidrosis | |
| HP:0002721 | Immunodeficiency | |
| HP:0001176 | Large hands | |
| HP:0000527 | Long eyelashes | |
| HP:0000272 | Malar flattening | |
| HP:0100540 | Palpebral edema | |
| HP:0000307 | Pointed chin | |
| HP:0000508 | Ptosis | |
| HP:0000960 | Sacral dimple | |
| HP:0002360 | Sleep abnormality | |
| HP:0000574 | Thick eyebrow | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0100702 | Arachnoid cyst | |
| HP:0008278 | Cerebellar cortical atrophy | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000678 | Dental crowding | |
| HP:0000689 | Dental malocclusion | |
| HP:0000286 | Epicanthus | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001263 | Global developmental delay | |
| HP:0012167 | Hair-pulling | |
| HP:0000365 | Hearing impairment | |
| HP:0000126 | Hydronephrosis | |
| HP:0000540 | Hypermetropia | |
| HP:0001249 | Intellectual disability | |
| HP:0001004 | Lymphedema | |
| HP:0000256 | Macrocephaly | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001513 | Obesity | |
| HP:0012787 | Recurrent pyelonephritis | |
| HP:0001581 | Recurrent skin infections | |
| HP:0000110 | Renal dysplasia | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0001537 | Umbilical hernia | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301377[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/48652
- This record as JSON: /data/d/48652.json