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MedGen for PubMed (Select 2208766)

Items: 20

1.

Craniofacial-skeletal-dermatologic dysplasia

An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes. [from NCI]

MedGen UID:
67390
Concept ID:
C0220658
Congenital Abnormality; Disease or Syndrome
2.

Tracheal stenosis

MedGen UID:
505350
Concept ID:
CN002513
Finding
3.

Pfeiffer syndrome

The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg mutation in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings. [from GeneReviews]

MedGen UID:
350148
Concept ID:
C1863356
Disease or Syndrome
4.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
5.

Cartilaginous trachea

MedGen UID:
400277
Concept ID:
C1863363
Finding
6.

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
7.

Acrocephalosyndactyly type V

MedGen UID:
78551
Concept ID:
C0265303
Disease or Syndrome
8.

Crouzon syndrome

The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg mutation in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings. [from GeneReviews]

MedGen UID:
1162
Concept ID:
C0010273
Congenital Abnormality; Disease or Syndrome
9.

Syndactyly

A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly. [from NCI]

MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
10.

Acrocephaly

Premature closing of the lambdoid and coronal sutures. [from MeSH]

MedGen UID:
10522
Concept ID:
C0030044
Congenital Abnormality; Disease or Syndrome
11.

Craniosynostosis syndrome

Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS. [from MeSH]

MedGen UID:
1163
Concept ID:
C0010278
Congenital Abnormality; Disease or Syndrome
12.

Acrocephalosyndactyly type II

MedGen UID:
350162
Concept ID:
C1863389
Disease or Syndrome
13.

Syndactyly type 5

MedGen UID:
350010
Concept ID:
C1861348
Disease or Syndrome
14.

Error occurred: cannot get document summary

ID:
851207

15.

Abnormality of cartilage

Any abnormality of cartilage. [from HPO]

MedGen UID:
851090
Concept ID:
CN232232
Finding
16.

Abnormality of the respiratory system

An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. [from HPO]

MedGen UID:
505093
Concept ID:
CN001887
Finding
17.

Abnormality of the trachea

An anomaly of the trachea. [from HPO]

MedGen UID:
446453
Concept ID:
CN002514
Finding
18.

Abnormality of connective tissue

Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). [from HPO]

MedGen UID:
428353
Concept ID:
CN003203
Finding
19.

Summitt syndrome

MedGen UID:
369198
Concept ID:
C1802405
Congenital Abnormality; Disease or Syndrome
20.

Auralcephalosyndactyly

MedGen UID:
354732
Concept ID:
C1862380
Disease or Syndrome
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