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Items: 1 to 20 of 27

1.

Oculodentodigital dysplasia

Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding (summary by Judisch et al., 1979). Neurologic abnormalities are sometimes associated (Gutmann et al., 1991), and lymphedema has been reported in some patients with ODDD (Brice et al., 2013). See review by De Bock et al. (2013). Genetic Heterogeneity of Oculodentodigital Syndrome An autosomal recessive form of ODDD (257850) is also caused by mutation in the GJA1 gene, but the majority of cases are autosomal dominant. [from OMIM]

MedGen UID:
167236
Concept ID:
C0812437
Congenital Abnormality; Disease or Syndrome
2.

Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
3.

Syndactyly

Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \ [from HPO]

MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
4.

Paraplegia

Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness. [from MeSH]

MedGen UID:
45323
Concept ID:
C0030486
Disease or Syndrome
5.

Spastic paraplegia

Spasticity and weakness of the leg and hip muscles. [from HPO]

MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
6.

Syndactyly

MedGen UID:
776571
Concept ID:
C2117411
Finding
7.

Paraplegia

Severe or complete weakness of both lower extremities with sparing of the upper extremities. [from HPO]

MedGen UID:
506382
Concept ID:
CN009381
Finding
8.

Neurodegeneration

Progressive loss of neural cells and tissue. [from HPO]

MedGen UID:
505144
Concept ID:
CN001976
Finding
9.

Conductive hearing impairment

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. [from HPO]

MedGen UID:
504435
Concept ID:
CN000378
Finding
10.

Hearing impairment

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

MedGen UID:
446352
Concept ID:
CN000341
Finding
11.

Spastic paraplegia

MedGen UID:
335468
Concept ID:
C1846589
Finding
12.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
13.

Conductive hearing loss

Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES. [from MeSH]

MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
14.

Partial deafness

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

MedGen UID:
5453
Concept ID:
C0018772
Finding
15.

Congenital anomaly of eye

Congenital absence of or defects in structures of the eye; may also be hereditary. [from MeSH]

MedGen UID:
4623
Concept ID:
C0015393
Congenital Abnormality; Disease or Syndrome
16.

WFS1-Related Disorders

WFS1-related disorders range from Wolfram syndrome (WFS) to WFS1-related low-frequency sensory hearing loss (also known as DFNA6/14/38 low-frequency sensorineural hearing loss [LFSNHL]). WFS is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus and optic atrophy before age 16 years, and typically associated with sensorineural hearing loss, progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony), and other endocrine abnormalities. Median age at death is 30 years. WFS-like disease is characterized by sensorineural hearing loss, diabetes mellitus, psychiatric illness, and variable optic atrophy. WFS1-related LFSNHL is characterized by congenital, nonsyndromic, slowly progressive, low-frequency (<2000 Hz) sensorineural hearing loss. [from GeneReviews]

MedGen UID:
331419
Concept ID:
C1833021
Disease or Syndrome
17.

Deafness, autosomal dominant 43

MedGen UID:
330769
Concept ID:
C1842108
Disease or Syndrome
18.

Spastic Paraplegia, Dominant

MedGen UID:
893641
Concept ID:
CN239430
Disease or Syndrome
19.

Spastic paraplegia 72, autosomal recessive

Hereditary spastic paraplegia-72 is a pure form of spastic paraplegia with onset of difficulty walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. The disorder is slowly progressive, and some patients develop the need for assistance in walking. Some patients may have pes cavus or sphincter disturbances. Cognition, speech, and ocular function are normal (summary by Esteves et al., 2014). For a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600), and for autosomal recessive spastic paraplegia, see SPG5A (270800). [from OMIM]

MedGen UID:
816490
Concept ID:
C3810160
Disease or Syndrome
20.

Multiple synostoses syndrome

Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints. [from ORDO]

MedGen UID:
799106
Concept ID:
CN204052
Disease or Syndrome
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