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1.

Treacher Collins syndrome

Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal. [from GeneReviews]

MedGen UID:
66078
Concept ID:
C0242387
Disease or Syndrome
2.

Omphalocele syndrome, Shprintzen-Goldberg type

A very rare inherited malformation syndrome with characteristics of omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. [from SNOMEDCT_US]

MedGen UID:
356653
Concept ID:
C1866958
Disease or Syndrome
3.

Hypoplasia of the pharynx

Underdevelopment of the pharynx. [from HPO]

MedGen UID:
869864
Concept ID:
C4024295
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