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Items: 11

1.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
2.

Legius syndrome

Legius syndrome is characterized by multiple café au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / ADHD / developmental delays. Current knowledge of the natural history of Legius syndrome is based on the clinical manifestations of fewer than 200 individuals with a molecularly confirmed diagnosis; better delineation of the clinical manifestations and natural history of Legius syndrome will likely occur as more affected individuals are identified. [from GeneReviews]

MedGen UID:
370709
Concept ID:
C1969623
Disease or Syndrome
3.

Macrocephaly

Enlargement of all or parts of the cerebral hemispheres. [from HPO]

MedGen UID:
65141
Concept ID:
C0221355
Congenital Abnormality; Finding
4.

Macrocephaly

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014). [from OMIM]

MedGen UID:
745757
Concept ID:
C2243051
Finding; Finding
5.

Hypertrichosis congenital generalized X-linked

A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. [from HPO]

MedGen UID:
341002
Concept ID:
C1855900
Disease or Syndrome
6.

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
7.

Cafe-au-lait spot

Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC). [from MeSH]

MedGen UID:
113157
Concept ID:
C0221263
Finding
8.

Neurofibromatosis, type 1

Neurofibromatosis 1 (NF1) is characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy. [from GeneReviews]

MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
9.

Freckling

The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. [from HPO]

MedGen UID:
5272
Concept ID:
C0016689
Finding; Finding
10.

Skin Manifestations

Dermatologic disorders attendant upon non-dermatologic disease or injury. [from MeSH]

MedGen UID:
52366
Concept ID:
C0037285
Sign or Symptom
11.

Cafe au lait spots, multiple

The presence of six or more cafe-au-lait spots. [from HPO]

MedGen UID:
396266
Concept ID:
C1861975
Disease or Syndrome
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