Acrofrontofacionasal Dysostosis 1

What is Acrofrontofacionasal Dysostosis 1?

Acrofrontofacionasal Dysostosis 1 is a rare disease. It is also known as Acro-fronto-facio-nasal dysostosis Affn Dysostosis 1; Affnd1 AFFND Cleft Lip/palate With Frontonasal Dysostosis And Postaxial Polysyndactyly Polysyndactyly, Postaxial, Frontonasal Dysostosis, And Cleft Lip/palate.

A brother and sister, the offspring of first cousins, were described by Richieri-Costa et al., (1985). Both had short stature, mental retardation, and facial and limb abnormalities. The face was characterised by hypertelorism, a notched or bifid nasal tip, and cleft lip and palate. Post-axial polydactyly was present in the hands together with syndactyly and camptodactyly. There was also hypoplasia of the distal phalanges, short metacarpals and hypoplastic toenails. In the legs the hips were dislocated and the fibulae were hypoplastic. The tarsals were abnormally modelled and tibio-talar subluxation was evident.
Richieri-Costa et al., (1992) reported a 26-year-old female with the condition. She had ulcerated corneae, bilateral polar cataracts, iris atrophy and evidence of microphthalmia on a CT scan. A similarly affected brother had died at 1 year.
Guion-Almeida and Richieri-Costa (2003) reported two further Brazilian sibs and provide a good review.

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* This information is courtesy of the L M D.

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What gene changes cause Acrofrontofacionasal Dysostosis 1?

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 - 201180 (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 Acrofrontofacionasal Dysostosis 1?

The typical symptoms of the syndrome are:
Non-midline cleft lip, Anonychia, Aplasia/Hypoplasia of the eyebrow, Abnormality of calvarial morphology, Abnormality of epiphysis morphology, Abnormality of thumb phalanx, Abnormality of the urinary system, Brushfield spots, Cerebral cortical atrophy, Cleft palate, Eyelid coloboma, Everted lower lip vermilion, Brachydactyly, Downslanted palpebral fissures, Malar flattening, Micromelia, Abnormal nasal morphology, Ptosis, Camptodactyly of finger, Hypertelorism, Short distal phalanx of finger, Short stature, Hypopigmented skin patches, Broad forehead, Cognitive impairment

How does someone get tested for Acrofrontofacionasal Dysostosis 1?

The initial testing for Acrofrontofacionasal Dysostosis 1 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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