Alopecia-Contractures-Dwarfism Mental Retardation syndrome

What is Alopecia-Contractures-Dwarfism Mental Retardation syndrome?

Alopecia-Contractures-Dwarfism Mental Retardation syndrome is a rare disease. It is also known as Acd Mental Retardation Syndrome ACD syndrome CDOD Cerebro-dermato-osseous-dysplasia.

There have been at least two reports of children born small for dates (one to consanguineous parents) who were noted to have turricephaly and dolichocephaly at birth, with a head circumferences below the 3rd centile, and who were subsequently found to be mentally handicapped. They had very sparse hair, short stature, a prominent nose and large ears. One had congenital glaucoma. Both cases had multiple contractures involving the fingers, elbows and knees, and dislocated hips. Kyphoscoliosis was noted soon after birth. The genitalia were small and the testes could not be palpated. Radiologically there was radiohumeral fusion, vertebral fusion and short middle phalanges. A mild hyperkeratosis was present in the Schinzel (1980) patient which involved the lower limbs but not the palms and soles. Marked clinodactyly of the fifth finger, hypoplasia of the middle phalanges and syndactyly of toes 4 and 5 seemed to be part of the condition. Sexual development was delayed. Dumic et al., (2000) reported two brothers, the offspring of non-consanguineous Croatian parents, with similar features. One brother had autoimmune thyroiditis and the other coeliac disease.
Schell-Apacik et al., (2008) reorted a new case and provided a good literature review. Note their suggestion that this could be the same as IFAP (see elsewhere).
Castori et al., (2015) reported a new case and suggested the name "cerebro-dermato-osseous dysplasia". They consider the cases of Bass et al., (1975) anf Majewski and Spranger (1976) previously called osteodysplastic primordial dwarfism type 1 (maybe by us), to have this condition.

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* This information is courtesy of the L M D.

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What gene changes cause Alopecia-Contractures-Dwarfism Mental Retardation syndrome?

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.

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.

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 - 203550 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Alopecia-Contractures-Dwarfism Mental Retardation syndrome?

The typical symptoms of the syndrome are:
Autosomal recessive inheritance, Narrow forehead, Myopia, Intrauterine growth retardation, Intellectual disability, progressive, Intellectual disability, severe, Abnormality of dental enamel, Abnormal nasal morphology, Low-set, posteriorly rotated ears, Large fleshy ears, Hypertelorism, Kyphosis, Hyperkeratosis, Short stature, Hypohidrosis, Short middle phalanx of the 5th finger, Ichthyosis, Cognitive impairment, Generalized hypoplasia of dental enamel, Abnormality of the hip bone, Abnormality of the helix, Abnormality of the elbow, Abnormality of the antihelix, Alopecia, Carious teeth, Abnormal toenail morphology, Synostosis of carpal bones, Tarsal synostosis, Severe postnatal growth retardation, Thoracic kyphoscoliosis, Scoliosis, Microcephaly, Telecanthus, Upslanted palpebral fissure, Vertebral segmentation defect, Limitation of joint mobility, Brachydactyly, Dolichocephaly, Hip dislocation, Prominent nose, Turricephaly, Cutaneous finger syndactyly, Flexion contracture, Clinodactyly of the 5th finger

How does someone get tested for Alopecia-Contractures-Dwarfism Mental Retardation syndrome?

The initial testing for Alopecia-Contractures-Dwarfism Mental Retardation syndrome 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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