Catel-Manzke syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
INDEX FINGER ANOMALY WITH PIERRE ROBIN SYNDROME Pierre Robin syndrome - hyperphalangy - clinodactyly Pierre Robin sequence - hyperphalangy - clinodactyly Index finger anomaly - Pierre Robin syndrome hyperphalangy-clinodactyly of index finger with pierre robin syndrome palatodigital syndrome, catel-manzke type micrognathia digital syndrome pierre robin syndrome with hyperphalangy and clinodactyly |
| Number of Symptoms | 69 |
| OrphanetNr: | 1388 |
| OMIM Id: |
302380
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| ICD-10: |
Q87.8 |
| UMLs: |
C1844887 |
| MeSH: |
C535347 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | > 33 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000028) | Cryptorchidism | 7.5000 % [HPO] | 347 / 7739 | |||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0010628) | Facial palsy | 7.5000 % [HPO] | 146 / 7739 | |||
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(HPO:0000476) | Cystic hygroma | 22 / 7739 | ||||
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(HPO:0000470) | Short neck | 7.5000 % [HPO] | 345 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Occasional [Orphanet] | 644 / 7739 | |||
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(HPO:0000347) | Micrognathia | 72.0000 % [HPO] | 426 / 7739 | |||
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(HPO:0000162) | Glossoptosis | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0000262) | Turricephaly | 39.0000 % [HPO] | 38 / 7739 | |||
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(HPO:0010296) | Ankyloglossia | Occasional [Orphanet] | 11 / 7739 | |||
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(HPO:0002553) | Highly arched eyebrow | Frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000204) | Cleft upper lip | 7.5000 % [HPO] | 193 / 7739 | |||
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(HPO:0000293) | Full cheeks | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000308) | Microretrognathia | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0000175) | Cleft palate | 78.0000 % [HPO] | 349 / 7739 | |||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0000389) | Chronic otitis media | Frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000377) | Abnormality of the pinna | 33.0000 % [HPO] | 111 / 7739 | |||
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(HPO:0001263) | Global developmental delay | 7.5000 % [HPO] | 853 / 7739 | |||
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(HPO:0001250) | Seizures | 7.5000 % [HPO] | 1245 / 7739 | |||
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(HPO:0009495) | Pseudoepiphyses of the 2nd finger | 100.0000 % [HPO] | 2 / 7739 | |||
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(HPO:0005930) | Abnormality of epiphysis morphology | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0003994) | Dislocated wrist | 24 / 7739 | ||||
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(HPO:0002827) | Hip dislocation | 94 / 7739 | ||||
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(HPO:0009473) | Joint contracture of the hand | 7.5000 % [HPO] | 84 / 7739 | |||
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(HPO:0009464) | Ulnar deviation of the 2nd finger | 6 / 7739 | ||||
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(HPO:0001762) | Talipes equinovarus | 7.5000 % [HPO] | 309 / 7739 | |||
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(HPO:0003834) | Shoulder dislocation | 28 / 7739 | ||||
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(HPO:0001388) | Joint laxity | 7.5000 % [HPO] | 117 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | 7.5000 % [HPO] | 146 / 7739 | |||
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(HPO:0007598) | Bilateral single transverse palmar creases | 40.0000 % [HPO] | 13 / 7739 | |||
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(HPO:0009466) | Radial deviation of finger | Occasional [Orphanet] | 101 / 7739 | |||
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(HPO:0100490) | Camptodactyly of finger | Occasional [Orphanet] | 212 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0005021) | Bilateral elbow dislocations | 24 / 7739 | ||||
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(HPO:0001373) | Joint dislocation | 59 / 7739 | ||||
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(HPO:0003042) | Elbow dislocation | 89 / 7739 | ||||
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(HPO:0000768) | Pectus carinatum | 136 / 7739 | ||||
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(HPO:0002999) | Patellar dislocation | 46 / 7739 | ||||
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(HPO:0012095) | Multiple joint dislocation | 24 / 7739 | ||||
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(HPO:0001382) | Joint hypermobility | Occasional [Orphanet] | 231 / 7739 | |||
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(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
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(HPO:0004209) | Clinodactyly of the 5th finger | Very frequent [Orphanet] 39.0000 % [HPO] | 288 / 7739 | |||
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(HPO:0000767) | Pectus excavatum | Occasional [Orphanet] | 244 / 7739 | |||
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(HPO:0000954) | Single transverse palmar crease | 162 / 7739 | ||||
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(HPO:0003179) | Protrusio acetabuli | 37 / 7739 | ||||
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(HPO:0004684) | Talipes valgus | Occasional [Orphanet] | 28 / 7739 | |||
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0001537) | Umbilical hernia | 7.5000 % [HPO] | 206 / 7739 | |||
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(HPO:0000023) | Inguinal hernia | 7.5000 % [HPO] | 181 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0008897) | Postnatal growth retardation | 113 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | 7.5000 % [HPO] | 358 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0001651) | Dextrocardia | 39.0000 % [HPO] | 38 / 7739 | |||
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(HPO:0002623) | Overriding aorta | 8 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | Frequent [Orphanet] 39.0000 % [HPO] | 316 / 7739 | |||
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(HPO:0001680) | Coarctation of aorta | 57 / 7739 | ||||
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(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
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(HPO:0002722) | Recurrent abscess formation | 7.5000 % [HPO] | 4 / 7739 | |||
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(OMIM) | Normal intelligence | 81 / 7739 | ||||
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(HPO:0003745) | Sporadic | 131 / 7739 | ||||
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(OMIM) | Robin anomaly | 1 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | Occasional [Orphanet] | 253 / 7739 | |||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding ... |
| Clinical Description OMIM |
Catel (1961) reported a 6-week-old male infant with clefting of the hard palate, glossoptosis, and micrognathia (Pierre Robin anomaly), who also had an accessory ossification center at the base of the proximal phalanx of the index finger, causing ... |
| Molecular genetics OMIM |
- Exclusion Studies Manzke et al. (2008) excluded mutations in the GDF5 gene (601146) as a cause of Catel-Manzke syndrome. |