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Schinzel phocomelia syndrome

MIM.276820

Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome.

The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome is caused by mutation in the WNT7A gene

Autosomal recessive disease.

Synopsis

- large parietooccipital skull defects without meningocele
- encephalocele
- brain malformations
- quadrilateral intercalary limb deficiencies
- preaxial toe polydactyly
- absent pelvis
- skull defects
- microtia
- telecanthus
- micropenis
- cryptorchidism
- renal cysts
- stenosis of the colon
- cleft alveolar ridge
- 46,XY karyotype
- autosomal recessive inheritance presumed
- severe pelvic anomalies
- skull anomalies

- Short stature, disproportionate
- Asymmetric facies
- Long facies
- Long ears
- Dysplastic ears
- Low-set ears
- Epicanthal folds
- Broad nasal bridge
- High palate
- Narrow palate
- Short neck
- Broad neck
- Barrel-shaped chest
- Prominent sternum
- Pectus carinatum
- Pseudoarthrosis of clavicle
- Broad clavicles
- Broad ribs
- Hypoplastic nipples
- Anteriorly displaced genitalia
- Hypospadias
- Hypoplastic scrotum
- External genitalia, female
- Anteriorly displaced genitalia
- Internal genitalia, male
- Cryptorchidism
- Absent uterus
- Poorly ossified calvarium
- Hemivertebrae
- Hip dislocation
- Hypoplastic iliac bone
- Aplastic pubic bones
- Elbow flexion contractures
- Shortened forearm
- Short, bowed radii
- Aplastic ulnae
- Humeroradial synostosis
- Short, bowed femur
- Aplastic fibulae
- Aplastic tibiae
- Slender tibiae
- Aplastic carpal bone
- Mobile wrist
- Aplastic/hypoplastic metacarpals
- Aplastic/hypoplastic phalanges
- Ectrodactyly
- Oligodactyly
- Aplastic/hypoplastic tarsals
- Aplastic/hypoplastic metatarsals
- Aplastic/hypoplastic phalanges
- Hypoplastic feet
- Oligodactyly
- Pilonidal sinus
- Anonychia
- Occipital meningocele

Etiology

- germline mutation in the WNT7A gene (MIM.601570)

  • allelic to Fuhrmann syndrome (MIM.228930) (fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly)

Differentiating diagnosis

- other multiple malformation syndromes with intercalary limb defects

  • thalidomide embryopathy
  • Roberts-SC phocomelia

References

- Olney RS, Hoyme HE, Roche F, Ferguson K, Hintz S, Madan A. Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. Am J Med Genet. 2001 Nov 1;103(4):295-301. PMID: 11746009