Pallister-Hall syndrome

What is Pallister-Hall syndrome?

Pallister-Hall syndrome is a rare genetic syndrome that may affect multiple parts of the body, but especially the fingers and toes. It is a very rare condition, so much so that its prevalence is unknown.

This syndrome is also known as:
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly; Hypothalamic-hamartoblastoma syndrome

What gene changes cause Pallister-Hall syndrome?

Changes in the GLI3 gene are responsible for causing the syndrome.

It is inherited in an autosomal dominant pattern.

What are the main symptoms of Pallister-Hall syndrome?

The main symptoms of the syndrome involve the fingers and toes. This includes the fusing of the digits and the presence of extra fingers and toes.

Hypothalamic hamartoma, which is a growth in the brain, is common with the syndrome. Generally, these growths do not cause any medical issues. Sometimes they may cause seizures or hormonal abnormalities that may be life-threatening in infancy.

Other symptoms include bifid epiglottis (malformed airway), an obstructed anal opening and kidney issues.

In most cases the symptoms characteristic of this syndrome are not severe.

Possible clinical traits/features:
Ectopic kidney, Brachydactyly, Hip dislocation, Distal urethral duplication, Distal shortening of limbs, Cryptorchidism, Decreased testicular size, Cleft upper lip, Cleft palate, Atresia of the external auditory canal, Finger syndactyly, Anterior hypopituitarism, Hypocortisolemia, Hypoplasia of the epiglottis, Cognitive impairment, Growth hormone deficiency, Short stature, Hemivertebrae, Holoprosencephaly, Depressed nasal bridge, Hypothalamic hamartoma, Short 4th metacarpal, Panhypopituitarism, Toe syndactyly, Patent ductus arteriosus, Autosomal dominant inheritance, Seizure, Precocious puberty, Rib fusion, Renal cyst, Renal dysplasia, Postaxial hand polydactyly, Postaxial foot polydactyly, Renal hypoplasia, Short nose, Natal tooth, Anteverted nares, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Microglossia, Micrognathia, Microtia, Midline facial capillary hemangioma, Micromelia, Micropenis, Microphthalmia, Laryngeal cleft, Abnormal lung lobation.

How is it diagnosed?

To find out if someone has a diagnosis of Pallister-Hall syndrome, 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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