Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Abnormality of the soft palate

MedGen UID:
451986
Concept ID:
CN117627
Finding
 
HPO: HP:0100736

Definition

An abnormality of the `soft palate` (FMA:55021). [from HPO]

Conditions with this feature

Cerebro-costo-mandibular syndrome
MedGen UID:
120537
Concept ID:
C0265342
Disease or Syndrome
Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental retardation. A spectrum of rib gap defects have been reported ranging from a few dorsal rib segments to complete absence of ossification. In about half of the 65 reported cases to date, there is cerebral involvement including mental retardation, microcephaly, and histologic anomalies. Both autosomal dominant and recessive inheritance has been described (Zeevaert et al., 2009). See CDG2G (611209) for a cerebrocostomandibular-like syndrome.
CHARGE association
MedGen UID:
75567
Concept ID:
C0265354
Congenital Abnormality
CHARGE is a mnemonic for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. CHARGE syndrome is characterized by the following: Unilateral or bilateral coloboma of the iris, retina-choroid, and/or disc with or without microphthalmos (80%-90% of individuals). Unilateral or bilateral choanal atresia or stenosis (50%-60%). Cranial nerve dysfunction resulting in hyposmia or anosmia, unilateral or bilateral facial palsy (40%), impaired hearing, and/or swallowing problems (70%-90%). Abnormal outer ears, ossicular malformations, Mondini defect of the cochlea and absent or hypoplastic semicircular canals (>90%). Cryptorchidism in males and hypogonadotrophic hypogonadism in both males and females. Developmental delay. Cardiovascular malformations (75%-85%). Growth deficiency (70%-80%). Orofacial clefts (15%-20%). Tracheoesophageal fistula (15%-20%) . Neonates with CHARGE syndrome often have multiple life-threatening medical conditions. Feeding difficulties are a major cause of morbidity in all age groups.
Pallister-Killian syndrome
MedGen UID:
120540
Concept ID:
C0265449
Disease or Syndrome
Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987).
Floating-Harbor syndrome
MedGen UID:
152667
Concept ID:
C0729582
Disease or Syndrome
Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior that are present in many children tend to improve in adulthood. Other features can include: hyperopia and/or strabismus; conductive hearing loss; seizures; gastroesophageal reflux; renal anomalies (e.g., hydronephrosis/renal pelviectasis, cysts, and/or agenesis) and genital anomalies (e.g., hypospadias and/or undescended testes).
CHARGE SYNDROME
MedGen UID:
323487
Concept ID:
C1535927
Disease or Syndrome
Amish lethal microcephaly
MedGen UID:
375938
Concept ID:
C1846648
Disease or Syndrome
Amish lethal microcephaly is characterized by microcephaly and early death. The occipitofrontal circumference is typically six to 12 standard deviations below the mean; anterior and posterior fontanels are closed at birth and facial features are distorted. The average life span is between five and six months.
Hexasomy 12p, mosaic
MedGen UID:
411627
Concept ID:
C2748628
Disease or Syndrome

Recent clinical studies

Etiology

Gondivkar SM, Indurkar A, Degwekar S, Bhowate R
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009 Dec;108(6):876-80. doi: 10.1016/j.tripleo.2009.08.015. PMID: 19913725
da Silva Dalben G, Richieri-Costa A, de Assis Taveira LA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008 Aug;106(2):e46-51. Epub 2008 Jun 13 doi: 10.1016/j.tripleo.2008.04.019. [Epub ahead of print] PMID: 18554940
Sommerlad BC, Fenn C, Harland K, Sell D, Birch MJ, Dave R, Lees M, Barnett A
Cleft Palate Craniofac J 2004 Mar;41(2):114-23. doi: 10.1597/02-102. PMID: 14989694
Deuschl G, Toro C, Valls-Solé J, Zeffiro T, Zee DS, Hallett M
Brain 1994 Aug;117 ( Pt 4):775-88. PMID: 7922465
Kaplan EN
Cleft Palate J 1975 Oct;12:356-68. PMID: 1058746

Diagnosis

Uchiyama T, Nakano Y, Koeda H
Bull Tokyo Dent Coll 1998 Nov;39(4):243-9. PMID: 10218005
Finkelstein Y, Hauben DJ, Talmi YP, Nachmani A, Zohar Y
Int J Pediatr Otorhinolaryngol 1992 Jan;23(1):25-34. PMID: 1592549
Boozer TW, Wheeler WE, Madan E
W V Med J 1991 Sep;87(9):403-4. PMID: 1949756
Trier WC
Cleft Palate J 1983 Jul;20(3):209-17. PMID: 6577984
Kaplan EN
Cleft Palate J 1975 Oct;12:356-68. PMID: 1058746

Therapy

Sommerlad BC, Fenn C, Harland K, Sell D, Birch MJ, Dave R, Lees M, Barnett A
Cleft Palate Craniofac J 2004 Mar;41(2):114-23. doi: 10.1597/02-102. PMID: 14989694
Hattori C, Nishimura T, Kawakatsu K, Hayakawa M, Suzuki K
Acta Otolaryngol Suppl 2003;(550):46-50. PMID: 12737342
Uchiyama T, Nakano Y, Koeda H
Bull Tokyo Dent Coll 1998 Nov;39(4):243-9. PMID: 10218005
Pelttari L, Polo O, Rauhala E, Vuoriluoto J, Aitasalo K, Hyyppä MT, Kronholm E, Irjala K, Viikari J
Clin Endocrinol (Oxf) 1995 Aug;43(2):175-82. PMID: 7554312
Wesley RE, Cooper J, Litchford DW
Ann Ophthalmol 1988 Apr;20(4):150-2. PMID: 2837126

Prognosis

Li HY, Chen NH, Lee LA, Shu YH, Fang TJ, Wang PC
ORL J Otorhinolaryngol Relat Spec 2004;66(3):119-23. doi: 10.1159/000079330. PMID: 15316231
Sommerlad BC, Fenn C, Harland K, Sell D, Birch MJ, Dave R, Lees M, Barnett A
Cleft Palate Craniofac J 2004 Mar;41(2):114-23. doi: 10.1597/02-102. PMID: 14989694
Pelttari L, Polo O, Rauhala E, Vuoriluoto J, Aitasalo K, Hyyppä MT, Kronholm E, Irjala K, Viikari J
Clin Endocrinol (Oxf) 1995 Aug;43(2):175-82. PMID: 7554312
Ono K, Ohashi Y, Nakano H, Togashi H, Kannari Y, Isono S
Jpn J Hum Genet 1993 Sep;38(3):319-28. doi: 10.1007/BF01874142. PMID: 8260723
Myers EN, Beery QC, Bluestone CD, Rood SR, Sigler BA
Ann Otol Rhinol Laryngol Suppl 1984 Nov-Dec;114:3-16. PMID: 6095722

Clinical prediction guides

Sommerlad BC, Fenn C, Harland K, Sell D, Birch MJ, Dave R, Lees M, Barnett A
Cleft Palate Craniofac J 2004 Mar;41(2):114-23. doi: 10.1597/02-102. PMID: 14989694
Hattori C, Nishimura T, Kawakatsu K, Hayakawa M, Suzuki K
Acta Otolaryngol Suppl 2003;(550):46-50. PMID: 12737342
Uchiyama T, Nakano Y, Koeda H
Bull Tokyo Dent Coll 1998 Nov;39(4):243-9. PMID: 10218005
Deuschl G, Toro C, Valls-Solé J, Zeffiro T, Zee DS, Hallett M
Brain 1994 Aug;117 ( Pt 4):775-88. PMID: 7922465
Myers EN, Beery QC, Bluestone CD, Rood SR, Sigler BA
Ann Otol Rhinol Laryngol Suppl 1984 Nov-Dec;114:3-16. PMID: 6095722

Supplemental Content

Table of contents

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...