Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 20

1.

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
2.

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
3.

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
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:
65141
Concept ID:
C0221355
Finding; Finding
5.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
6.

Macrocephaly

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. [from HPO]

MedGen UID:
745757
Concept ID:
C2243051
Finding; Finding
7.

Multiple cafe-au-lait spots

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

MedGen UID:
506088
Concept ID:
CN006634
Finding
8.

Neurofibromas

The presence of multiple cutaneous neurofibromas. [from HPO]

MedGen UID:
504707
Concept ID:
CN001002
Finding
9.

Neurofibromatosis-Noonan syndrome

MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
10.

Cafe au lait spots, multiple

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

MedGen UID:
396266
Concept ID:
C1861975
Finding
11.

Lisch nodules

The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. [from HPO]

MedGen UID:
395461
Concept ID:
C1860334
Finding
12.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
13.

Inguinal freckling

The presence in the inguinal region (groin) 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:
320315
Concept ID:
C1834297
Finding
14.

Neurofibromatoses

Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous. There are three types of neurofibromatosis: . -Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood. Sometimes the symptoms are present at birth. -Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Symptoms often start in the teen years. -Schwannomatosis causes intense pain. It is the rarest type. Doctors diagnose the different types based on the symptoms. Genetic testing is also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptoms. Depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
58149
Concept ID:
C0162678
Finding
15.

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
16.

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
17.

Skin Manifestations

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

MedGen UID:
52366
Concept ID:
C0037285
Sign or Symptom
18.

Skin Manifestations: absent

MedGen UID:
776701
Concept ID:
CN184658
Finding
19.

Splenomegaly, cytopenia, and vision loss

Tantravahi et al. (2012) reported an apparently new syndrome involving massive splenomegaly, cytopenia, anhidrosis, chronic optic nerve edema, and vision loss. [from OMIM]

MedGen UID:
767192
Concept ID:
C3554278
Disease or Syndrome
20.

Relative macrocephaly

Head circumference is less than two standard deviations above the mean, but appears disproportionately large when other factors such as stature are considered. [from SNOMEDCT_US]

MedGen UID:
338607
Concept ID:
C1849075
Finding; Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...