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Items: 1 to 20 of 53

1.

Thoracic dysplasia

MedGen UID:
853272
Concept ID:
C1406921
Congenital Abnormality
2.

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

MedGen UID:
850705
Concept ID:
CN231399
Finding
3.

Cloverleaf skull

Trilobar skull configuration when viewed from the front or behind. [from HPO]

MedGen UID:
348010
Concept ID:
C1860050
Finding
4.

Generalized

Affecting all regions without specificity of distribution. [from HPO]

MedGen UID:
104661
Concept ID:
C0205246
Spatial Concept
5.

Cloverleaf skull syndrome

Cloverleaf skull, or Kleeblattschaedel, consists of a trilobular skull with craniosynostosis. The condition shows pathogenetic variability and etiologic heterogeneity. The cause of isolated cloverleaf skull is unknown (Cohen, 2009). Cohen (1975) pointed out that Kleeblattschaedel is a component of many syndromes, e.g., it is found in some cases of Crouzon syndrome (123500), Pfeiffer syndrome (101600), and Carpenter syndrome (201000). Cohen (2009) listed 12 monogenic disorders with cloverleaf skull as a feature, including type II thanatophoric dysplasia (187601), which accounts for 40% of all cloverleaf skull syndromes. Cohen (2009) published photographs of cloverleaf skull in various syndromes. [from GTR]

MedGen UID:
98141
Concept ID:
C0432126
Disease or Syndrome
6.

Dysplasia

A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
7.

Syndactyly

A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements. [from MeSH]

MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
8.

Ankylosis

Fixation and immobility of a joint. [from MeSH]

MedGen UID:
8101
Concept ID:
C0003090
Pathologic Function
9.

Dwarfism

A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. [from MeSH]

MedGen UID:
3931
Concept ID:
C0013336
Congenital Abnormality
10.

Syndactyly

MedGen UID:
776571
Concept ID:
C2117411
Finding
11.

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
12.

Thanatophoric dysplasia type 1

Thanatophoric dysplasia (TD) is a short-limb dwarfism syndrome that is usually lethal in the perinatal period. TD is divided into type I, characterized by micromelia with bowed femurs and, uncommonly, the presence of cloverleaf skull deformity (Kleeblattschädel) of varying severity; and type II, characterized by micromelia with straight femurs and uniform presence of moderate-to-severe cloverleaf skull deformity. Other features common to type I and type II include: short ribs, narrow thorax, macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported. [from GTR]

MedGen UID:
358383
Concept ID:
C1868678
Disease or Syndrome
13.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
353811
Concept ID:
C1708511
Genetic Function
14.

Talipes equinovarus

MedGen UID:
335852
Concept ID:
C1842988
15.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
16.

Short ribs

Reduced rib length. [from HPO]

MedGen UID:
98094
Concept ID:
C0426817
Finding
17.

Lateral

Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
64373
Concept ID:
C0205093
Spatial Concept
18.

Thanatophoric dysplasia

A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate. [from NCI]

MedGen UID:
21124
Concept ID:
C0039743
Congenital Abnormality
19.

Micromelia

The presence of abnormally small extremities. [from HPO]

MedGen UID:
10031
Concept ID:
C0025995
Congenital Abnormality
20.

Talipes equinovarus

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012). [from GTR]

MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
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