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Items: 1 to 20 of 69

1.

Overgrowth syndrome

MedGen UID:
799030
Concept ID:
CN206621
Disease or Syndrome
2.

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

MedGen UID:
797329
Concept ID:
CN197499
Congenital Abnormality
3.

Overgrowth syndrome

A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome. [from NCI]

MedGen UID:
458929
Concept ID:
C2986703
Disease or Syndrome
4.

Overgrowth

Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. [from HPO]

MedGen UID:
376550
Concept ID:
C1849265
Finding
5.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
6.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
7.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
8.

Arthrogryposis multiplex congenita

A non-progressive finding characterized by multiple joint contractures found throughout the body at birth. [from HPO]

MedGen UID:
2455
Concept ID:
C0003886
Disease or Syndrome; Finding
9.

Craniosynostosis

MedGen UID:
910776
Concept ID:
CN241055
Disease or Syndrome
10.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
11.

Craniosynostosis 1

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. Genetic Heterogeneity of Craniosynostosis Craniosynostosis-2 (CRS2; 604757) is caused by mutation in the MSX2 gene (123101) on chromosome 5q. Craniosynostosis-3 (CRS3; 615314) is caused by mutation in the TCF12 gene (600480) on chromosome 15q21. Craniosynostosis-4 (CRS4; 600775) is caused by mutation in the ERF gene (611888) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5; 615529) is conferred by variation in the ALX4 gene (605420) on chromosome 7p21. Craniosynostosis-6 (CRS6; 616602) is caused by mutation in the ZIC1 gene (600470) on chromosome 3q24. Susceptibility to craniosynostosis-7 (CRS7; 617439) is conferred by variation in the SMAD6 gene (602931) on chromosome 15q22. [from GTR]

MedGen UID:
468569
Concept ID:
CN029978
Disease or Syndrome
12.

Arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures, with a worldwide incidence of 1 in 3,000 live births. AMC can occur in the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). There is also a distal form of arthrogryposis multiplex congenita (see DA1A, 108120) and a lethal congenital form (see LCCS1, 253310). [from GTR]

MedGen UID:
419371
Concept ID:
C2931264
13.

Craniosynostosis

MedGen UID:
342372
Concept ID:
C1849943
14.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
334384
Concept ID:
C1843367
Finding
15.

Distal arthrogryposis

A form of arthrogryposis primarily affecting the hands and the feet. [from HPO]

MedGen UID:
120512
Concept ID:
C0265213
Disease or Syndrome
16.

Sacral dimple

A small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area. [from NCI]

MedGen UID:
98428
Concept ID:
C0426848
Finding
17.

Distal

Localized away from the central point of the body. [from HPO]

MedGen UID:
64375
Concept ID:
C0205108
Spatial Concept
18.

Joint laxity

Lack of stability of a joint. [from HPO]

MedGen UID:
39439
Concept ID:
C0086437
Pathologic Function
19.

Intellectual functioning disability

A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. [from NCI]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
20.

Craniosynostosis syndrome

A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull. [from NCI]

MedGen UID:
1163
Concept ID:
C0010278
Disease or Syndrome
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