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Submucous cleft soft palate

MedGen UID:
868770
Concept ID:
C4023175
Congenital Abnormality
Synonyms: Partial thickness cleft soft palate; Submucous cleft velum
 
HPO: HP:0011819

Definition

A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSubmucous cleft soft palate

Conditions with this feature

Intellectual disability-brachydactyly-Pierre Robin syndrome
MedGen UID:
325196
Concept ID:
C1837564
Disease or Syndrome
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.
Acromelic frontonasal dysostosis
MedGen UID:
350933
Concept ID:
C1863616
Disease or Syndrome
Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.
Birk-Barel syndrome
MedGen UID:
393583
Concept ID:
C2676770
Disease or Syndrome
KCNK9 imprinting syndrome is characterized by congenital central hypotonia (manifest as decreased movement, lethargy, and weak cry), severe feeding difficulties (resulting from facial weakness and poor suck), delayed development/intellectual disability, and dysmorphic manifestations. Poor feeding can cause failure to thrive during infancy unless managed appropriately. Significant dysphagia of solid foods typically persists until puberty. Intellectual disability can be severe. To date 19 individuals with a molecularly confirmed diagnosis have been reported.
Syndromic X-linked intellectual disability 34
MedGen UID:
902184
Concept ID:
C4225417
Mental or Behavioral Dysfunction
X-linked syndromic intellectual developmental disorder-34 (MRXS34) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with poor speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum (summary by Mircsof et al., 2015).
VISS syndrome
MedGen UID:
1794165
Concept ID:
C5561955
Disease or Syndrome
VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).

Recent clinical studies

Etiology

Schönweiler R, Lisson JA, Schönweiler B, Eckardt A, Ptok M, Tränkmann J, Hausamen JE
Int J Pediatr Otorhinolaryngol 1999 Nov 5;50(3):205-17. doi: 10.1016/s0165-5876(99)00243-8. PMID: 10595666

Diagnosis

Schönweiler R, Lisson JA, Schönweiler B, Eckardt A, Ptok M, Tränkmann J, Hausamen JE
Int J Pediatr Otorhinolaryngol 1999 Nov 5;50(3):205-17. doi: 10.1016/s0165-5876(99)00243-8. PMID: 10595666

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