Preferred Label : Metaphyseal acroscyphodysplasia;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Wedge-shaped epiphyses of knees; Cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly;
Description : Based on 2 unrelated personal cases and a pair of sibs from the literature, Verloes
et al. (1991) delineated a 'new' category of bone dysplasia with cup-shaped, large
metaphyses. They suggested the name metaphyseal acroscyphodysplasia ('acro-' refers
to limb; 'scypho-' comes from scyphus, meaning cup). 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.
One of the 2 unrelated cases had abnormal facies but was mentally normal; psychomotor
retardation was present in 3 of 4 cases. The affected sibs, a boy and his sister,
were reported by Bellini et al. (1984). One of these sibs had abnormal hair (see 609990).
Verloes et al. (1991) considered autosomal recessive inheritance very likely. Kozlowski
et al. (1995) reported 2 sisters with distinctive radiographic features that combined
cone-shaped epiphyses and cupped metaphyses of distal femora with spondyloepiphyseal
dysplasia. The distinctive metaphyseal appearance at the knees was also described
by Verloes et al. (1991) and characterized by association of the metaphyseal changes
with very short hands and feet. Kozlowski et al. (1995) concluded that there is more
than one bone dysplasia that presents with these distinctive radiographic knee appearances
but that because of too few cases, no satisfactory classification of a group of disorders
is possible. See also cupped metaphyses and cone-shaped epiphyses without alopecia
or brachydactyly (609989). *FIELD* RF 1. Bellini, F.; Chiumello, G.; Rimoldi, R.;
Weber, G.: Wedge-shaped epiphyses of the knees in two siblings: a new recessive rare
dysplasia? Helv. Paediat. Acta 39: 365-372, 1984. 2. Kozlowski, K.; Meradji, M.; Beemer,
F. A.: Dutch variant of Bellini metaphyseal dysplasia: report of two siblings. Australasian
Radiol. 39: 282-286, 1995. 3. Verloes, A.; Le Merrer, M.; Farriaux, J.-P.; Maroteaux,
P.: Metaphyseal acroscyphodysplasia. Clin. Genet. 39: 362-369, 1991. *FIELD* CS Autosomal
recessive;
Inheritance : Autosomal recessive;
Prefixed ID : %250215;
Origin ID : 250215;
UMLS CUI : C1855243;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
