Postaxial Acrofacial Dysostosis (POADS)

What is Postaxial Acrofacial Dysostosis (POADS)?

Postaxial Acrofacial Dysostosis is a rare genetic syndrome also often referred to as Miller syndrome. Its defining features include craniofacial abnormalities affecting the face and skull, as well as limb abnormalities too. The syndrome is usually identified at birth. There are less than 75 cases currently reported worldwide although it is believed there are a number of undiagnosed cases which would make the prevalence rate higher.

This syndrome is also known as:
Genee-Wiedemann Syndrome; Miller Syndrome POADS

What gene changes cause Postaxial Acrofacial Dysostosis (PADS)?

Mutations in the DHODH gene are responsible for causing the syndrome.

It is inherited in an autosomal recessive pattern.

What are the main symptoms of Postaxial Acrofacial Dysostosis?

Unique facial features are a main symptom of the syndrome. They include:

  • Underdeveloped cheekbones, a small jaw, cleft palate, cup-shaped ears, a cleft lip, broad nasal bridge, and the absence of tissue from the lower eyelids.
  • Breathing and feeding difficulties are often a consequence of a small jaw.
  • Some individuals may also have hearing loss, which is linked to issues with the development of the inner ear associated with the syndrome.
  • Missing digits, both fingers and toes, are also associated with the syndrome. As are undeveloped bones in the digits. Finger webbing is also often present.
  • Some affected individuals also have kidney, gastrointestinal, and heart problems.

Possible clinical traits/features:
Pectus excavatum, Midgut malrotation, Micrognathia, Micropenis, Low-set ears, Low-set, posteriorly rotated ears, Abnormal dermatoglyphics, Conical tooth, Cleft upper lip, Congenital hip dislocation, Malformation of the heart and great vessels, Ectropion, Cupped ear, Cryptorchidism, Finger syndactyly, Malar flattening, Conductive hearing impairment, Downslanted palpebral fissures, Short thumb, Hypoplasia of the ulna, Hypoplasia of the zygomatic bone, Hypoplasia of the radius, Postnatal growth retardation, Choanal atresia, Eyelid coloboma, Cleft palate, Abnormality of the kidney, Abnormality of the foot, Abnormality of the ulna, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Non-midline cleft lip, Syndactyly, Pyloric stenosis, Supernumerary nipple, Supernumerary vertebrae, Radioulnar synostosis, Camptodactyly of finger, Strabismus.

How is it diagnosed?

To find out if someone has a diagnosis of Postaxial Acrofacial Dysostosis, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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