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Results: 1 to 20 of 28

1.

Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacies (including macrocephaly, coarse facial features, macrostomia, macroglossia, palatal abnormalities); and commonly, mild to severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti/umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and GI anomalies. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors, including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, and hepatocellular carcinoma. [from GeneReviews]

MedGen UID:
162917
Concept ID:
C0796154
Congenital Abnormality
2.

Overgrowth

MedGen UID:
376550
Concept ID:
C1849265
Finding
3.

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by macrosomia, macroglossia, visceromegaly, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), omphalocele, neonatal hypoglycemia, ear creases/pits, adrenocortical cytomegaly, and renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly). Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues. [from GeneReviews]

MedGen UID:
2562
Concept ID:
C0004903
Disease or Syndrome
4.

Micrognathia

MedGen UID:
401012
Concept ID:
C1866485
Finding
5.

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
6.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
7.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
8.

Congenital chromosomal disease

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) [from MeSH]

MedGen UID:
3441
Concept ID:
C0008626
Disease or Syndrome
9.

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs late in the first or second decades of life (summary by Weedon et al., 2013). [from OMIM]

MedGen UID:
811623
Concept ID:
C3715192
Disease or Syndrome
10.

Increased urinary sulfate

Elevated concentration of sulfate in the urine. [from HPO]

MedGen UID:
776434
Concept ID:
CN183882
Finding
11.

Abnormality of the nephron

A structural anomaly of the nephron. [from HPO]

MedGen UID:
776412
Concept ID:
CN183844
Finding
12.

Hypoplasia of the vagina

Developmental hypoplasia of the vagina. [from HPO]

MedGen UID:
501047
Concept ID:
CN007676
Finding
13.

Abnormality of the urinary system physiology

MedGen UID:
489101
Concept ID:
CN167005
Finding
14.

Abnormality of body weight

MedGen UID:
488951
Concept ID:
C0878621
Finding
15.

Macrocephaly, macrosomia, facial dysmorphism syndrome

MedGen UID:
481725
Concept ID:
C3280095
Disease or Syndrome
16.

Abnormality of mucopolysaccharide metabolism

An abnormality of the metabolism of mucopolysaccharide. [from HPO]

MedGen UID:
451291
Concept ID:
CN116752
Finding
17.

Abnormality of polysaccharide metabolism

An abnormality of the metabolism of polysaccharide. [from HPO]

MedGen UID:
451283
Concept ID:
CN116744
Finding
18.

Abnormality of proteoglycan metabolism

An abnormality of proteoglycan metabolism. [from HPO]

MedGen UID:
446589
Concept ID:
CN003854
Finding
19.

Abnormality of the mandible

Any abnormality of the mandible, the bone of the lower jaw. [from HPO]

MedGen UID:
446345
Concept ID:
CN000263
Finding
20.

Abnormality of glycosaminoglycan metabolism

Abnormality of glycosaminoglycan metabolism. [from HPO]

MedGen UID:
428459
Concept ID:
CN003870
Finding

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