Menke-Hennekam syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Menke-Hennekam syndrome | |
| fr | Syndrome de Menke-Hennekam | |
| de | Menke-Hennekam-Syndrom | |
| es | Síndrome de Menke-Hennekam | |
| it | Sindrome di Menke-Hennekam | |
| nl | Syndroom van Menke-Hennekam | |
| pt | Síndrome de Menke-Hennekam | |
| pl | Zespół Menkego i Hennekama | |
| cs | Menkeho-Hennekamův syndrom | |
| uk | Синдром Менке-Хеннекама | |
| zh | Menke-Hennekam syndrome | |
| tr | Menke-Hennekam syndrome |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618332 | BTNT | validated | |
| OMIM | 618333 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0020774 | E | validated | |
| UMLS | C5681632 | 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 (5):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CREBBP | Disease-causing germline mutation(s) in | Assessed | HGNC:2348 | ENSG00000005339 | 600140 | 16p13.3 | CREB binding lysine acetyltransferase | 27311832[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 cases | Worldwide | Case(s) | Validated | 27311832[PMID]_29460469[PMID]_30892814[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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.
HPO phenotypes
44 annotations · validated 2024-05-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000288 | Abnormality of the philtrum | |
| HP:0000463 | Anteverted nares | |
| HP:0000729 | Autistic behavior | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0000365 | Hearing impairment | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000540 | Hypermetropia | |
| HP:0000316 | Hypertelorism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000527 | Long eyelashes | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0001270 | Motor delay | |
| HP:0011220 | Prominent forehead | |
| HP:0000508 | Ptosis | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0001852 | Sandal gap | |
| HP:0002000 | Short columella | |
| HP:0003196 | Short nose | |
| HP:0200006 | Slanting of the palpebral fissure | |
| HP:0000486 | Strabismus | |
| HP:0000506 | Telecanthus | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0012725 | Cutaneous syndactyly | |
| HP:0001385 | Hip dysplasia | |
| HP:0000023 | Inguinal hernia | |
| HP:0000545 | Myopia | |
| HP:0025502 | Overweight | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0001537 | Umbilical hernia | |
| Very rare (<4-1%) | ||
| HP:0002926 | Abnormality of thyroid physiology | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0034323 | Reduced circulating growth hormone concentration | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 35626936[PMID]_38553851[PMID]_34652060[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/592574
- This record as JSON: /data/d/592574.json