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Results: 11

1.

SUPERNUMERARY DER(22)t(8

Carriers of the balanced constitutional translocation t(8;22)(q24.13;q11.2) are phenotypically normal but are at risk of having progeny with supernumerary der(22)t(8;22) syndrome as a result of malsegregation of the der(22). Although the supernumerary der(22)t(8;22) phenotype is variable between individuals, it tends to include ear and extremity abnormalities in addition to mild mental retardation (summary by Sheridan et al., 2010). [from OMIM]

MedGen UID:
462316
Concept ID:
C3150966
Disease or Syndrome
2.

Abnormality of the larynx

An abnormality of the larynx. [from HPO]

MedGen UID:
446418
Concept ID:
CN001456
Finding
3.

Marden Walker like syndrome

Van den Ende-Gupta syndrome is an autosomal recessive disorder characterized by severe contractual arachnodactyly from birth and distinctive facial dysmorphism, including triangular face, malar hypoplasia, narrow nose, everted lips, and blepharophimosis. Skeletal anomalies include slender ribs, hooked clavicles, and dislocated radial head. There is no neurologic involvement (summary by Patel et al., 2014). [from OMIM]

MedGen UID:
322127
Concept ID:
C1833136
Disease or Syndrome
4.

Multiple fibrofolliculomas

The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
5.

Palatal abnormalities

MedGen UID:
760143
Concept ID:
CN181773
Disease or Syndrome
6.

Congenital contracture

One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. [from HPO]

MedGen UID:
505360
Concept ID:
CN002533
Finding
7.

Laryngomalacia

Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. [from HPO]

MedGen UID:
504867
Concept ID:
CN001457
Finding
8.

Blepharophimosis

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. [from HPO]

MedGen UID:
504508
Concept ID:
CN000545
Finding
9.

Arachnodactyly

MedGen UID:
371636
Concept ID:
C1833730
Finding
10.

Laryngomalacia

A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain. [from MeSH]

MedGen UID:
120500
Concept ID:
C0264303
Congenital Abnormality
11.

Arachnodactyly

An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes. [from MeSH]

MedGen UID:
2047
Concept ID:
C0003706
Disease or Syndrome

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