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1.

Treacher Collins syndrome

Treacher Collins syndrome (TCS) is characterized by hypoplasia of the zygomatic bones and mandible, external ear abnormalities, coloboma (notching) of the lower eyelid, absence of the lower eyelashes, and preauricular hair displacement onto the cheeks. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation (including ankylosis, hypoplasia, or absence) of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other less common abnormalities include cleft palate with or without cleft lip and unilateral or bilateral choanal stenosis or atresia. [from GeneReviews]

MedGen UID:
66078
Concept ID:
C0242387
Congenital Abnormality
2.

Microcephalus

Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium. [from HPO]

MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality; Disease or Syndrome
3.

Choanal atresia

Absence or abnormal closure of the choana (the posterior nasal aperture). [from HPO]

MedGen UID:
3395
Concept ID:
C0008297
Congenital Abnormality; Disease or Syndrome
4.

Delay

MedGen UID:
879911
Concept ID:
CN235300
Finding
5.

Microtia

Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia (see this term), where there is a complete absence of the external ear and of the auditory canal. [from ORDO]

MedGen UID:
830836
Concept ID:
CN206061
Finding
6.

Mandibulofacial dysostosis

A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. [from HPO]

MedGen UID:
505796
Concept ID:
CN004722
Finding
7.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
504774
Concept ID:
CN001157
Finding
8.

Choanal atresia

Absence or abnormal closure of the choana (the posterior nasal aperture). [from HPO]

MedGen UID:
504447
Concept ID:
CN000423
Finding
9.

Preauricular skin tag

A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). [from HPO]

MedGen UID:
504427
Concept ID:
CN000359
Finding
10.

Microcephaly

MedGen UID:
473122
Concept ID:
C0424688
Finding
11.

Nonsyndromic microcephaly

MedGen UID:
419828
Concept ID:
C2931527
Disease or Syndrome
12.

Preauricular skin tag

A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). [from HPO]

MedGen UID:
395989
Concept ID:
C1860816
Finding
13.

Microtia

MedGen UID:
351220
Concept ID:
C1864797
Finding
14.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
107838
Concept ID:
C0557874
Finding; Finding
15.

Developmental delay

Failure to meet, or late achievement of developmental milestones. [from NCI]

MedGen UID:
98410
Concept ID:
C0424605
Mental or Behavioral Dysfunction
16.

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
17.

Deafness

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
4155
Concept ID:
C0011053
Finding; Finding
18.

Cleft palate

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). [from HPO]

MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality; Disease or Syndrome
19.

Congenital ocular coloboma

Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular Coloboma A recessive form of ocular coloboma (216820) is caused by mutation in the SALL2 gene (602219) on chromosome 14q11. [from OMIM]

MedGen UID:
1046
Concept ID:
C0009363
Congenital Abnormality
20.

Coloboma

A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. [from HPO]

MedGen UID:
504512
Concept ID:
CN000552
Finding
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