Pierre Robin Syndrome malady
Rare diseases, Eye diseases, Fetal diseases categories
Aliases & Descriptions for Pierre Robin Syndrome:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Rare diseases, Fetal diseases
Anatomical: Eye diseases
Characteristics (Orphanet epidemiological data):48
isolated pierre robin sequence:
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy
NIH Rare Diseases:42 Pierre robin sequence is a condition present at birth, in which the infant has a smaller than normal lower jaw, a tongue that falls back in the throat, and difficulty breathing. pierre robin sequence may occur alone or be associated with a variety of other signs and symptoms, such as bifid uvula (a split in the soft flap of tissue that hangs from the back of the mouth), cleft palate, conductive hearing loss, recurring ear infections, eye anomalies (e.g., hypermetropia, myopia, astigmatism), heart defects, joint and skeletal anomalies, central nervous system defects (e.g., language and neurodevelopmental delay, epilepsy, hypotonia, and hydrocephalus) and genitourinary defects (e.g., undescended testes, hydronephrosis, and hydrocele). the exact causes of pierre robin syndrome are unknown, however it may occur as part of a variety of different genetic syndromes. last updated: 7/27/2012
MalaCards based summary: Pierre Robin Syndrome, also known as isolated pierre robin sequence, is related to catel-manzke syndrome and obstructive sleep apnea, and has symptoms including glossoptosis, cleft palate and micrognathia. An important gene associated with Pierre Robin Syndrome is SOX9 (SRY (sex determining region Y)-box 9). Affiliated tissues include tongue, eye and heart.
Genetics Home Reference:21 Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (a cleft palate). This condition is described as a "sequence" because one of its features, an underdeveloped lower jaw (mandible), sets off a sequence of events before birth that cause the other signs and symptoms. Specifically, having an abnormally small jaw affects placement of the tongue and formation of the palate, leading to glossoptosis and cleft palate.
OMIM:46 Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and... (261800) more...
Wikipedia:64 Pierre Robin syndrome (abbreviated to PRS, and also known as Pierre Robin malformation, Pierre Robin... more...
Symptoms by clinical synopsis from OMIM:261800
Clinical features from OMIM:261800
HPO human phenotypes related to Pierre Robin Syndrome:(show all 14)
MalaCards organs/tissues related to Pierre Robin Syndrome:31
Tongue, Eye, Heart, Testes, Lung
Articles related to Pierre Robin Syndrome:
Search GEO for disease gene expression data for Pierre Robin Syndrome.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet