Acrocapitofemoral Dysplasia; ACFD

What is Acrocapitofemoral Dysplasia; ACFD?

Acrocapitofemoral Dysplasia; ACFD is a rare disease. It is also known as Acrocapitofemoral Dysplasia.

Mortier et al., (2003) reported four children from two consanguineous pedigrees with an unusual form of skeletal dysplasia. There was short stature, brachydactyly, a narrow thorax and a relatively large head. Radiographs showed cone shaped epiphyses in the hands and to a variable degree in the shoulders, knees, and ankles. Premature fusion between the epiphyses and the metaphyses of the femoral heads resulted in an 'egg shaped' femoral head, and very short femoral necks. From the photographs there appeared to be some rhisomelic shortening of the upper limbs in some cases. The authors note the similarity to the case reported by Hoeffel et al., (1987).
Hellemans et al., (2003) mapped the gene to 2q35-q36 and demonstrated mutations in the Indian hedghog IHH gene.

* This information is courtesy of the L M D.

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What gene changes cause Acrocapitofemoral Dysplasia; ACFD?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 607778 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
IHH - 2q35

What are the main symptoms of Acrocapitofemoral Dysplasia; ACFD?

The typical symptoms of the syndrome are:
Scoliosis, Short femur, Short metacarpal, Short thorax, Disproportionate short stature, Short palm, Relative macrocephaly, Macrocephaly, Autosomal recessive inheritance, Ovoid vertebral bodies, Pectus carinatum, Genu varum, Hyperlordosis, Short distal phalanx of finger, Short humerus, Short stature, Short tibia, Short ribs, Hypoplasia of the radius, Short proximal phalanx of finger, Hypoplastic iliac wing, Short femoral neck, Short proximal phalanx of thumb, Hypoplasia of the ulna, Fibular overgrowth, Flared iliac wings, Delayed skeletal maturation, Delayed ossification of carpal bones, Enlargement of the distal femoral epiphysis, Cone-shaped epiphysis of the 1st metacarpal, Cone-shaped epiphysis, Cone-shaped capital femoral epiphysis, Brachydactyly, Disproportionate short-limb short stature, Dysplasia of the femoral head, Cupped ribs, Coxa vara, Abnormality of the hip bone, Abnormality of the metacarpal bones, Abnormality of femur morphology, Anonychia, Broad nail, Lumbar hyperlordosis, Pectus excavatum, Mic

How does someone get tested for Acrocapitofemoral Dysplasia; ACFD?

The initial testing for Acrocapitofemoral Dysplasia; ACFD can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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