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Items: 5

1.

CHARGE association

CHARGE is a mnemonic for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. CHARGE syndrome is characterized by the following: Unilateral or bilateral coloboma of the iris, retina-choroid, and/or disc with or without microphthalmos (80%-90% of individuals). Unilateral or bilateral choanal atresia or stenosis (50%-60%). Cranial nerve dysfunction resulting in hyposmia or anosmia, unilateral or bilateral facial palsy (40%), impaired hearing, and/or swallowing problems (70%-90%). Abnormal outer ears, ossicular malformations, Mondini defect of the cochlea and absent or hypoplastic semicircular canals (>90%). Cryptorchidism in males and hypogonadotrophic hypogonadism in both males and females. Developmental delay. Cardiovascular malformations (75%-85%). Growth deficiency (70%-80%). Orofacial clefts (15%-20%). Tracheoesophageal fistula (15%-20%). Neonates with CHARGE syndrome often have multiple life-threatening medical conditions. Feeding difficulties are a major cause of morbidity in all age groups. [from GeneReviews]

MedGen UID:
75567
Concept ID:
C0265354
Congenital Abnormality; Disease or Syndrome
2.

Hyposmia

MedGen UID:
807606
Concept ID:
CN220138
Finding
3.

Sense of smell impaired

A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). [from HPO]

MedGen UID:
473584
Concept ID:
C2364082
Finding; Finding; Sign or Symptom
4.

Congenital anosmia

MedGen UID:
95992
Concept ID:
C0393778
Congenital Abnormality
5.

Sense of smell impaired

MedGen UID:
66693
Concept ID:
C0234260
Finding
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