Acrocraniofacial dysostosis
historical
Synonyms: Kaplan-Plauchu-Fitch syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- historical
A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrocraniofacial dysostosis | Kaplan-Plauchu-Fitch syndrome |
| fr | Dysostose acro-cranio-faciale | Syndrome de Kaplan-Plauchu-Fitch |
| de | Dysostose, akro-kranio-faziale | Kaplan-Plauchu-Fitch-Syndrom |
| es | Disostosis acrocraneofacial | Síndrome de Kaplan-Plauchu-Fitch |
| it | Disostosi acro-cranio-facciale | Sindrome di Kaplan-Plauchu-Fitch |
| nl | Acrocraniofaciale dysostose | Syndroom van Kaplan-Plauchu-Fitch |
| pt | Disostose acro-cranio-facial | Síndrome Kaplan-Plauchu-Fitch |
| pl | Dyzostoza kończynowo-czaszkowo-twarzowa | Zespół Kaplana, plauchu i Fitcha |
| cs | Akrokraniofaciální dysostóza | Kaplanův-Plauchův-Fitchův syndrom · Kaplan-Plauchu-Fitchův syndrom |
| uk | Акрокраніофаціальний дизостоз | Синдром Каплана-Плаучу-Фітча |
| zh | 肢端颅面骨发育不良 | Kaplan-Plauchu-Fitch综合征 |
| tr | Akrokraniofasiyal disostoz | Kaplan-Plauchu-Fitch sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201050 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0008712 | E | validated | |
| MeSH | C536892 | E | validated | |
| UMLS | C1860145 | E | validated | |
| GARD | 3075 | 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 (3):
- ORPHA:364574Acrofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
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 | 2 cases | Worldwide | Case(s) | Validated | 3344780[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3344780[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
44 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0011304 | Broad thumb | |
| HP:0000175 | Cleft palate | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002869 | Flared iliac wings | |
| HP:0000347 | Micrognathia | |
| HP:0010097 | Partial duplication of the distal phalanx of the hallux | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0004467 | Preauricular pit | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000520 | Proptosis | |
| HP:0000508 | Ptosis | |
| HP:0010034 | Short 1st metacarpal | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0001182 | Tapered finger | |
| HP:0000506 | Telecanthus | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0000262 | Turricephaly | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0011453 | Abnormality of the incus | |
| HP:0011454 | Abnormality of the malleus | |
| HP:0004452 | Abnormality of the middle ear ossicles | |
| HP:0006288 | Advanced eruption of teeth | |
| HP:0000453 | Choanal atresia | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002673 | Coxa valga | |
| HP:0001363 | Craniosynostosis | |
| HP:0002857 | Genu valgum | |
| HP:0000316 | Hypertelorism | |
| HP:0000632 | Lacrimation abnormality | |
| HP:0000252 | Microcephaly | |
| HP:0000545 | Myopia | |
| HP:0000767 | Pectus excavatum | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000340 | Sloping forehead | |
| HP:0003298 | Spina bifida occulta | |
| HP:0009465 | Ulnar deviation of finger | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/949
- This record as JSON: /data/d/949.json