Acrocephalopolydactylous Dysplasia

What is Acrocephalopolydactylous Dysplasia?

Acrocephalopolydactylous Dysplasia is a rare disease. It is also known as Acrocephalopolydactylous dysplasia Elejalde Syndrome.

The exact nature of this entity is uncertain because, despite excellent clinical and anatomical descriptions, no X-rays of the short-limbed stillbirths were published by Elejalde et al., (1977). The salient clinical features were short limbs, post-axial polydactyly in one of the sibs, a high birth-weight and a short neck with redundant skin folds. The palpebral fissures were upslanting and slit-like, and the body was swollen and almost globular. All of the sutures seemed to be fused. Both sibs had an omphalocele and lung hypoplasia. At a microscopic level there was pancreatic fibrosis, sponge kidney, cystic renal dysplasia and proliferation of perivascular nerve fibres in many tissues. One sib had spleno-pancreatic fusion. The liver was enlarged, as were the kidneys, ureters and gall bladder. The lungs were small and atelectatic. Lurie et al., (1991) reported a further male case from Byelorussia and Nevin et al., (1994) an 18-week fetus with the condition. Thornton and Stewart (1997) reported a liveborn case who died at 2 hours of age. A small accessory spleen was noted at the hilum of the spleen. There was no cyst formation in the kidneys and polydactyly was absent. As yet there have been no radiological reports of this condition.
Silhanova et al., (2006) reported a case. There was no polydactyly, but the kidneys were small (without cysts) and the liver large (fibrous bands were present. All the sutures seemed fused and the pancreas was fibrotic. Radiologically, the long bones were short. Phadke et al., (2011), reported a case with additional features (anal atresia, oesophageal atresia and new cardiac anomalies)

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* This information is courtesy of the L M D.

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What gene changes cause Acrocephalopolydactylous Dysplasia?

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 - 200995 (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 Acrocephalopolydactylous Dysplasia?

The typical symptoms of the syndrome are:
Cystic renal dysplasia, Craniosynostosis, Hypoplastic colon, Extrapulmonary sequestrum, Epicanthus, Enlarged kidney, Ascites, Abnormality of the pinna, Pulmonary hypoplasia, Upslanted palpebral fissure, Phenotypic variability, Hypoplasia of the small intestine, Autosomal recessive inheritance, Short neck, Omphalocele, Pancreatic fibrosis, Oxycephaly, Polysplenia, Postaxial hand polydactyly, Low-set ears, Short nose, Micromelia, Hypertelorism, Hepatic fibrosis, Hepatomegaly

How does someone get tested for Acrocephalopolydactylous Dysplasia?

The initial testing for Acrocephalopolydactylous Dysplasia 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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