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Metaphyseal acroscyphodysplasia

Orpha number ORPHA1240
Synonym(s) Bellini syndrome
intellectual disability - short stature - wedge shaped epiphyses of knees
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q78.5
OMIM
UMLS
  • C1855243
MeSH
  • C537350
MedDRA -
SNOMED CT -

Summary

This syndrome was reported in 4 patients only, including a pair of sibs (brother and sister). The name given to this bone dysplasia includes the root « scypho » , meaning cup, because affected patients had cup-shaped, large metaphyses. The main clinical features were severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly. The radiologic appearance of the knees was considered specific: the lower femoral and upper tibial epiphyses were embedded in the metaphyses, which were severely cup-shaped. Premature central epiphyso-metaphyseal fusion and gross deformation, or even coalescence, of the femoral condyles, occurred. Femoral diaphyses were short and broad, and there was progressive coxa valga. Bowed and/or short stubby tibias with cone-shaped metaphyses, and varus deformity of the tibio-astragalian joint were other features. Slight deformation of the long bones occurred in the arms. The main signs of hand involvement were severe brachydactyly, brachymesophalangy, phalangeal and metacarpal cone-shaped epiphyses, and irregular, bent, and shortened diaphyses. Psychomotor retardation was present in 3 of 4 cases. An autosomal recessive inheritance is very likely.

Expert reviewer(s)

  • Dr Emmanuelle PROUST-LEMOINE

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