U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Search results

Items: 13

1.

CHARGE syndrome

CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal. [from GeneReviews]

MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
2.

Asphyxiating thoracic dystrophy 3

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). [from OMIM]

MedGen UID:
19860
Concept ID:
C0036069
Disease or Syndrome
3.

Clubfoot

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 OMIM]

MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
4.

Tibia, hypoplasia or aplasia of, with polydactyly

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. [from ORDO]

MedGen UID:
348786
Concept ID:
C1861098
Disease or Syndrome
5.

CODAS syndrome

CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015). [from OMIM]

MedGen UID:
333031
Concept ID:
C1838180
Disease or Syndrome
6.

Laurin-Sandrow syndrome

Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects (hypoplastic alae nasi, short columella), in connection with absent patella and duplicated fibula (summary by Lohan et al., 2014). [from OMIM]

MedGen UID:
340697
Concept ID:
C1851100
Disease or Syndrome
7.

Gollop-Wolfgang complex

Gollop-Wolfgang complex (GWC) is a rare congenital limb anomaly characterized by bifurcation of the femur with ipsilateral tibial aplasia and split hand and monodactyly of the feet, resulting in severe and complex limb deformities. Variable expressivity and incomplete penetrance have been reported (Odrzywolski et al., 2024). [from OMIM]

MedGen UID:
341622
Concept ID:
C1856789
Disease or Syndrome
8.

Split-hand/foot malformation with long bone deficiency 1

MedGen UID:
349310
Concept ID:
C1861553
Disease or Syndrome
9.

Chromosome 17P13.3, telomeric, duplication syndrome

MedGen UID:
390813
Concept ID:
C2675492
Disease or Syndrome
10.

Tibial hemimelia

Tibial hemimelia is a rare anomaly characterized by deficiency of the tibia with relatively intact fibula. Jones et al. (1978) classified the anomaly into 4 types according to radiologic criteria. It may present as an isolated anomaly or be associated with a variety of skeletal and extraskeletal malformations. Tibial hemimelia may also constitute a part of a more complicated malformation complex or syndrome, such as the Gollop-Wolfgang complex (228250) and triphalangeal thumb-polysyndactyly syndrome (see 174500 and 188740) (Matsuyama et al., 2003). McKay et al. (1984) reviewed syndromes of congenital defects in which tibial hemimelia is a feature. [from OMIM]

MedGen UID:
120551
Concept ID:
C0265633
Congenital Abnormality
11.

Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia

MedGen UID:
355340
Concept ID:
C1864965
Disease or Syndrome
12.

Mesomelic dysplasia, Savarirayan type

Severely hypoplastic and triangular-shaped tibiae and absence of the fibulae.Two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia also reported. [from SNOMEDCT_US]

MedGen UID:
343129
Concept ID:
C1854470
Disease or Syndrome
13.

Absent tibia

Absence of the tibia. [from HPO]

MedGen UID:
478374
Concept ID:
C3276744
Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...