U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Search results

Items: 12

1.

Polydactyly, postaxial, type A1

MedGen UID:
924305
Concept ID:
C4282400
Congenital Abnormality
2.

Brachydactyly type B2

Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly (summary by Lehmann et al., 2007). [from OMIM]

MedGen UID:
409880
Concept ID:
C1969652
Disease or Syndrome
3.

Hecht syndrome

The trismus-pseudocamptodactyly syndrome is a distal arthrogryposis characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volar flexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. In these patients, trismus complicates dental care, feeding during infancy, and intubation for anesthesia, and the pseudocamptodactyly impairs manual dexterity, with consequent occupational and social disability (summary by Veugelers et al., 2004). [from OMIM]

MedGen UID:
78540
Concept ID:
C0265226
Disease or Syndrome
4.

Van Maldergem syndrome 2

Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by Cappello et al., 2013). For a discussion of genetic heterogeneity of Van Maldergem syndrome, see 601390. [from OMIM]

MedGen UID:
816205
Concept ID:
C3809875
Disease or Syndrome
5.

Cleft lip/palate-ectodermal dysplasia syndrome

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive. [from SNOMEDCT_US]

MedGen UID:
444067
Concept ID:
C2931488
Disease or Syndrome
6.

Menke-Hennekam syndrome 2

Menke-Hennekam syndrome-2 (MKHK2) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, and hearing impairment are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-2 (RSTS2; 613684), patients with MKHK1 do not resemble the striking phenotype of RSTS2. For a discussion of genetic heterogeneity of Menke-Hennekam syndrome, see MKHK1 (618332). [from OMIM]

MedGen UID:
1676668
Concept ID:
C5193035
Disease or Syndrome
7.

Menke-Hennekam syndrome 1

Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-1 (RSTS1; 180849), patients with MKHK1 do not resemble the striking phenotype of RSTS1. Genetic Heterogeneity of Menke-Hennekam Syndrome Menke-Hennekam syndrome-2 (MKHK2; 618333) is caused by heterozygous mutation in exons 30 or 31 of the EP300 gene (602700). Mutation elsewhere in that gene results in RSTS2 (613684). [from OMIM]

MedGen UID:
1675629
Concept ID:
C5193034
Disease or Syndrome
8.

Multiple synostoses syndrome 3

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene. [from MONDO]

MedGen UID:
414116
Concept ID:
C2751826
Disease or Syndrome
9.

Intellectual disability, X-linked, syndromic, 35

MedGen UID:
1392054
Concept ID:
C4478383
Disease or Syndrome
10.

Basan syndrome

Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993). [from OMIM]

MedGen UID:
140808
Concept ID:
C0406707
Disease or Syndrome
11.

Endove syndrome, limb-only type

Limb-only ENDOVE syndrome (ENDOVESL) is characterized by marked mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. Patients also exhibit abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies have been observed (Allou et al., 2021). [from OMIM]

MedGen UID:
1787128
Concept ID:
C5543128
Disease or Syndrome
12.

Cutaneous syndactyly of toes

A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. [from HPO]

MedGen UID:
320423
Concept ID:
C1834737
Congenital Abnormality; Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity