Acrorenal-Mandibular syndrome

What is Acrorenal-Mandibular syndrome?

Acrorenal-Mandibular syndrome is a rare disease. It is also known as Acrorenal-uterine-mandibular Syndrome; Arums ARUMS Split-hand And Split-foot With Mandibular Hypoplasia.

There are a number of acro-renal syndromes (eg. Dieker, Siegler etc.) but none has the degree of mandibular hypoplasia present in the sibs described by Halal et al., (1980). The upper limb defects are asymmetrical and are either split hands or radial ray defects. In the feet there is either splitting or monodactyly, with small tarsal bones. There is some similarity with Hanhart (hypoglossia-hypodactyly) syndrome, but in that condition renal lesions are rare and the limb defects are mostly terminal transverse. The renal lesions in acro-renal-mandibular syndrome were bilateral renal agenesis in one sib and cystic dysplasia in the other. Both sibs had abnormalities of the uterine cavity.
The patient reported by Robertson and Bankier (1999) may fall into this group. No mention was made of renal investigations. An 18 week male fetus with features of the condition was reported by Tobias et al., (2001). Additional features noted were low-set, posteriorly rotated ears, various deformities of the feet, rib hypoplasia, down slanting palpebral fissures, a long flat philtrum, butterfly vertabrae, flexion contractures of the limbs, tibial shortening, and choanal stenosis.
The case reported by Phadke and Manisha (2006) could fall into this group. The jaw was very small and there was both ectrodactyly and syndactyly of the feet. The was generalised hirsutism, deep-set eyes, low-set ears, hypoplasia of the nipple on one side and acleft palate. The kidneys, ureters and bladder were absent.
A new case was reported by Girisha et al., (2012). Additional features included hydronephrosis and knee dislocation.

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* This information is courtesy of the L M D.

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What gene changes cause Acrorenal-Mandibular 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.

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 - 200980 (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 Acrorenal-Mandibular syndrome?

The typical symptoms of the syndrome are:
Abnormality of fibula morphology, Abnormality of the clavicle, Abnormality of the cardiovascular system, Abnormality of the hip bone, Absent nipple, Abnormal palate morphology, Abnormality of tibia morphology, Abnormality of the ureter, Abnormality of the ribs, Abnormality of the sense of smell, Butterfly vertebrae, Oral cleft, Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the lungs, Hemivertebrae, Hypoplasia of the radius, Bicornuate uterus, Hypoplastic scapulae, High palate, Hypoplasia of the ulna, Kyphosis, Thin ribs, Short neck, Renal agenesis, Toe syndactyly, Pectus carinatum, Autosomal recessive inheritance, Foot polydactyly, Hand polydactyly, Posteriorly rotated ears, Oligohydramnios, Elbow flexion contracture, Split hand, Epicanthus, Polycystic kidney dysplasia, Sprengel anomaly, Congenital diaphragmatic hernia, Downslanted palpebral fissures, Split foot, Finger syndactyly, Hip dislocation, Dolichocephaly, Kyphoscoliosis, Missing ribs, Micrognathia, Narrow p

How does someone get tested for Acrorenal-Mandibular syndrome?

The initial testing for Acrorenal-Mandibular 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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