U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Heart defect - tongue hamartoma - polysyndactyly syndrome(CHDTHP)

MedGen UID:
341804
Concept ID:
C1857587
Disease or Syndrome
Synonyms: Congenital heart defects, hamartomas of tongue, and polysyndactyly; Orstavik Lindemann Solberg syndrome
 
Gene (location): WDPCP (2p15)
 
Monarch Initiative: MONDO:0009008
OMIM®: 217085
Orphanet: ORPHA1338

Definition

A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. [from ORDO]

Clinical features

From HPO
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
2-3 finger syndactyly
MedGen UID:
96573
Concept ID:
C0432055
Congenital Abnormality
Syndactyly with fusion of fingers two and three.
Broad hallux
MedGen UID:
401165
Concept ID:
C1867131
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Postaxial polydactyly type A
MedGen UID:
854350
Concept ID:
C3887487
Disease or Syndrome
Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.
2-3 toe syndactyly
MedGen UID:
1645640
Concept ID:
C4551570
Congenital Abnormality
Syndactyly with fusion of toes two and three.
Coarctation of aorta
MedGen UID:
1617
Concept ID:
C0003492
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Complete atrioventricular canal
MedGen UID:
65132
Concept ID:
C0221215
Congenital Abnormality
A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
Subvalvular aortic stenosis
MedGen UID:
90950
Concept ID:
C0340375
Disease or Syndrome
A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Hamartoma of tongue
MedGen UID:
98465
Concept ID:
C0431565
Finding
A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Orofacial cleft
MedGen UID:
472000
Concept ID:
C3266076
Congenital Abnormality
The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHeart defect - tongue hamartoma - polysyndactyly syndrome

Recent clinical studies

Diagnosis

Saari J, Lovell MA, Yu HC, Bellus GA
Am J Med Genet A 2015 Feb;167A(2):421-7. Epub 2014 Nov 26 doi: 10.1002/ajmg.a.36852. PMID: 25427950
Velepic MS, Sasso A, Velepic MM, Lustica I, Starcevic R, Komljenovic D
J Pediatr Surg 2004 Feb;39(2):220-2. doi: 10.1016/j.jpedsurg.2003.10.023. PMID: 14966745

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...