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Items: 15

1.

Chondroectodermal dysplasia

Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals (summary by Ruiz-Perez et al., 2000). The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (604831) or in the EVC2 gene (607261) (Ruiz-Perez et al., 2003, Galdzicka et al., 2002). [from OMIM]

MedGen UID:
8584
Concept ID:
C0013903
Disease or Syndrome
2.

Ellis-van Creveld Syndrome

MedGen UID:
893448
Concept ID:
CN239258
Disease or Syndrome
3.

Proportionate short stature; mild intellectual disability; dysmorphic facial features; precocious puberty

MedGen UID:
850705
Concept ID:
CN231399
Finding
4.

Curry-Hall syndrome

Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by Howard et al., 1997). [from OMIM]

MedGen UID:
141594
Concept ID:
C0457013
Congenital Abnormality; Disease or Syndrome
5.

Dwarfism

A dwarf is a person of short stature - under 4' 10 as an adult. More than 200 different conditions can cause dwarfism. A single type, called achondroplasia, causes about 70 percent of all dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. It makes your arms and legs short in comparison to your head and trunk. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease. However, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and live as long as other people.  [from MedlinePlus]

MedGen UID:
3931
Concept ID:
C0013336
Congenital Abnormality; Disease or Syndrome
6.

Severe short stature

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. [from HPO]

MedGen UID:
500957
Concept ID:
CN003167
Finding
7.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
8.

Abnormality of the skin

An abnormality of the skin. [from HPO]

MedGen UID:
11449
Concept ID:
C0037268
Disease or Syndrome; Finding
9.

Osteochondrodysplasia

A general term describing features characterized by abnormal development of bones and connective tissues. [from HPO]

MedGen UID:
10495
Concept ID:
C0029422
Congenital Abnormality; Disease or Syndrome
10.

Ectodermal dysplasia

Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. [from HPO]

MedGen UID:
8544
Concept ID:
C0013575
Congenital Abnormality; Disease or Syndrome
11.

Multiple congenital anomalies

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

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
12.

Ectodermal dysplasia 8, hair/tooth/nail type

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-8 is an autosomal recessive disorder characterized by abnormal development of hair, teeth, and nails. [from OMIM]

MedGen UID:
355502
Concept ID:
C1865594
Disease or Syndrome
13.

Van Bogaert-Hozay syndrome

MedGen UID:
341263
Concept ID:
C1848598
Disease or Syndrome
14.

Ectodermal dysplasia/short stature syndrome

MedGen UID:
807526
Concept ID:
CN219576
Disease or Syndrome
15.

Frank Ter Haar syndrome

The primary characteristics of the Frank-ter Haar syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs (summary by Maas et al., 2004). Borrone syndrome was described as a severe progressive multisystem disorder with features overlapping those of FTHS, including thick skin, acne conglobata, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. Although it was initially thought to be a distinct phenotype, mutations in the FTHS-associated gene SH3PXD2B have been identified in patients diagnosed with Borrone syndrome. The earlier differential description was attributed to phenotypic variability as well as to differences in the ages at which patients were examined (Wilson et al., 2014). [from OMIM]

MedGen UID:
383652
Concept ID:
C1855305
Disease or Syndrome
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