[MIM 146 510]

(Hypothalamic hamartoblastoma-polydactyly syndrome)

Prevalence: < 1/106. Autosomal dominant transmission with variable expressivity or de novo mutation. Mutations in the GLI3 gene (7p14.1).

Association of:

-        central or mesoaxial polydactyly and/or syndactyly

-        hamartoma of the hypothalamus with neuroendocrine disorders: panhypopituitarism, sometimes acute adrenal failure, precocious puberty

-        short nose, low-set ears with posterior rotation

-        bifid uvula or epiglottis (asymptomatic), sometimes laryngeal cleft (see this term)

-        palatine (or velar) cleft

-        gelastic epilepsy (see this term)

-        sometimes:

                       1) anorectal malformation or Hirchsprung disease,

                       2) abnormal lung lobulation

                       3) kidney or genitourinary malformations: cryptorchidism, hydrometrocolpos, vaginal atresia

Anesthetic implications:

check endocrine status and renal function; laryngeal cleft ?, epilepsy

References : 

• Odent S, Mercier S, Quélin C, Lacombe D.
  Altérations de la voie de signalisation Sonic Hedgehog et anomalies du développement : « hedgehogopathies »,
  In Syndromes dysmorphiques, D Lacombe et N Philip, Série Progrès en Pédiatrie n°35, Doin 2013, p 27-39
• Kraus M, Diu M.
  Bifid epiglottis in a patient with Pallister-Hall syndrome.
  Can J Anesth 2016; 63: 1197-8

Updated: January 2017