Harrod syndrome
Synonyms: Cranio-facio-digito-genital syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Harrod syndrome | Cranio-facio-digito-genital syndrome |
| fr | Syndrome de Harrod | Syndrome cranio-facio-digito-génital |
| de | Harrod-Syndrom | Kranio-fazio-digito-genitales Syndrom |
| es | Síndrome de Harrod | Síndrome cráneo-facio-dígito-genital |
| it | Sindrome di Harrod | Sindrome cranio-facio-digito-genitale |
| nl | Syndroom van Harrod | Cranio-facio-digito-genitaal syndroom |
| pt | Síndrome Harrod | Síndrome cranio-facio-digito-genital |
| pl | Zespół Harroda | Zespół czaszkowo-twarzowo-palcowo-płciowy |
| cs | Harrodův syndrom | Kraniofaciodigitogenitální syndrom |
| uk | Синдром Харрода | Краніо-фаціально-дигіто-генітальний синдром |
| zh | Harrod综合征 | 颅-面-指-生殖器综合征 |
| tr | Harrod sendromu | Kraniyo-fasiyo-dijito-genital sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601095 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010993 | E | validated | |
| MeSH | C535635 | E | validated | |
| UMLS | C0795970 | E | validated | |
| GARD | 2601 | 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 (4):
- 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 - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 8669446[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8669446[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 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0000689 | Dental malocclusion | |
| HP:0001508 | Failure to thrive | |
| HP:0000218 | High palate | |
| HP:0000601 | Hypotelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000276 | Long face | |
| HP:0003189 | Long nose | |
| HP:0000252 | Microcephaly | |
| HP:0000275 | Narrow face | |
| HP:0000160 | Narrow mouth | |
| HP:0000307 | Pointed chin | |
| HP:0000411 | Protruding ear | |
| Frequent (79-30%) | ||
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0003043 | Abnormality of the shoulder | |
| HP:0000518 | Cataract | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0000047 | Hypospadias | |
| HP:0001382 | Joint hypermobility | |
| HP:0002808 | Kyphosis | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2115
- This record as JSON: /data/d/2115.json