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1.

De Lange syndrome

Classic Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation (prenatal onset; <5th centile throughout life), hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched eyebrows, long eyelashes, short nose with anteverted nares, small widely spaced teeth, and microcephaly. IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. [from GTR]

MedGen UID:
78752
Concept ID:
C0270972
Disease or Syndrome
2.

Cornelia de Lange Syndrome

Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.Cornelia de Lange syndrome is characterized by slow growth before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities of bones in the arms, hands, and fingers. Most people with Cornelia de Lange syndrome also have distinctive facial features, including arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Many affected individuals also have behavior problems similar to autism, a developmental condition that affects communication and social interaction.Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair (hypertrichosis), an unusually small head (microcephaly), hearing loss, and problems with the digestive tract. Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. Seizures, heart defects, and eye problems have also been reported in people with this condition. [from GTR]

MedGen UID:
893466
Concept ID:
CN239271
Disease or Syndrome
3.

Cornelia de Lange syndrome 1

Classic Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation (prenatal onset; <5th centile throughout life), hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched eyebrows, long eyelashes, short nose with anteverted nares, small widely spaced teeth, and microcephaly. IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. [from GTR]

MedGen UID:
429758
Concept ID:
CN029798
Disease or Syndrome
4.

Hearing impairment

A general term for the complete or partial loss of the ability to hear from one or both ears. [from MeSH]

MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
5.

Congenital diaphragmatic hernia

Diaphragmatic hernia that is present at birth. [from NCI]

MedGen UID:
68625
Concept ID:
C0235833
Disease or Syndrome
6.

Hirsutism

A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth. [from MeSH]

MedGen UID:
42461
Concept ID:
C0019572
Finding
7.

Pyloric stenosis

An abnormal narrowing of the pylorus. [from HPO]

MedGen UID:
18780
Concept ID:
C0034194
Finding; Pathologic Function
8.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
9.

Facial features

MedGen UID:
880870
Concept ID:
CN236432
Finding
10.

Hearing Loss

A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. [from NCI]

MedGen UID:
854601
Concept ID:
C3887873
Finding
11.

Abnormality of the genital system

An abnormality of the genital system. [from HPO]

MedGen UID:
852497
Concept ID:
C0281966
Finding
12.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
13.

Abnormality of the cardiac septa

An anomaly of the intra-atrial or intraventricular septum. [from HPO]

MedGen UID:
428275
Concept ID:
CN001520
Finding
14.

Sporadic

Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. [from HPO]

MedGen UID:
342827
Concept ID:
C1853237
Finding
15.

Stenosis

Narrowing or stricture of a vessel, duct or canal. [from NCI]

MedGen UID:
224710
Concept ID:
C1261287
Pathologic Function
16.

Frequent

Coming at short intervals or in great quantities. [from NCI]

MedGen UID:
87144
Concept ID:
C0332183
Temporal Concept
17.

Hernia

Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the ABDOMINAL WALL or the respiratory DIAPHRAGM. Hernias may be internal, external, congenital, or acquired. [from MeSH]

MedGen UID:
6816
Concept ID:
C0019270
Anatomical Abnormality; Finding
18.

Congenital septal defect

A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum. [from NCI]

MedGen UID:
6752
Concept ID:
C0018816
Congenital Abnormality; Disease or Syndrome
19.

Hearing impairment

A condition in which a person partially loses the ability to hear sounds in one or both ears. [from NCI]

MedGen UID:
5453
Concept ID:
C0018772
Finding
20.

Developmental disorder

A disorder diagnosed in childhood that is marked by either physical or mental impairment or both, which in turn affects the child from achieving age related developmental milestones. [from NCI]

MedGen UID:
3367
Concept ID:
C0008073
Mental or Behavioral Dysfunction
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