Macrocephaly-developmental delay syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrocephaly-developmental delay syndrome | |
| fr | Syndrome de macrocéphalie-retard de développement | |
| de | Makrozephalie-Entwicklungsverzögerung-Syndrom | |
| es | Síndrome de macrocefalia-retraso del desarrollo | |
| it | Sindrome macrocefalia-ritardo dello sviluppo | |
| nl | Macrocefalie - ontwikkelingsachterstand-syndroom | |
| pt | Síndrome de macrocefalia-perturbação do desenvolvimento | |
| pl | Zespół makrocefalia -opóźnienie rozwoju | |
| cs | Syndrom zahrnující makrocefalii a opožděný vývoj | |
| uk | Синдром макроцефалії-затримки розвитку | |
| zh | 小头畸形-发育迟缓综合征 | |
| tr | Makrosefali-gelişme geriliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615637 | E | validated | |
| ICD-10 | Q75.3 | NTBT | attributed | validated |
| MONDO | 0014289 | E | validated | |
| UMLS | C4706573 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KPTN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6404 | ENSG00000118162 | 615620 | 19q13.32 | kaptin, actin binding protein | 24239382[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24239382[PMID] |
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 24239382[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
26 annotations · validated 2019-11-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0001963 | Abnormal speech discrimination | |
| HP:0000739 | Anxiety | |
| HP:0031936 | Delayed ability to walk | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002007 | Frontal bossing | |
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| Occasional (29-5%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001363 | Craniosynostosis | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0010845 | EEG with generalized slow activity | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000218 | High palate | |
| HP:0001252 | Hypotonia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000308 | Microretrognathia | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0100540 | Palpebral edema | |
| HP:0011220 | Prominent forehead | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0030799 | Scaphocephaly | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000431 | Wide nasal bridge | |
Annotation source: 25847626[PMID]_24239382[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397612
- This record as JSON: /data/d/397612.json