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Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

MedGen UID:
1830104
•Concept ID:
C5680310
•
Disease or Syndrome
Synonyms: Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome; choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome; KMT2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome; KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome; Lysine methyltransferase 2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome
SNOMED CT: Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (1281843005); Lysine methyltransferase 2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (1281843005); KMT2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (1281843005)
 
Monarch Initiative: MONDO:0035651
Orphanet: ORPHA589856

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development and short stature. Developmental delay/intellectual disabilities are variably reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Recent clinical studies

Etiology

Female-restricted syndromic intellectual disability in a patient from Thailand.
Sinthuwiwat T, Ittiwut C, Porntaveetus T, Shotelersuk V
Am J Med Genet A 2019 May;179(5):758-761. Epub 2019 Mar 3 doi: 10.1002/ajmg.a.61106. PMID: 30828969
Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions.
Oldenburg MS, Frisch CD, Lindor NM, Edell ES, Kasperbauer JL, O'Brien EK
Am J Otolaryngol 2015 Sep-Oct;36(5):636-41. Epub 2015 Apr 15 doi: 10.1016/j.amjoto.2015.04.005. PMID: 25940662
CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development.
Pinto G, Abadie V, Mesnage R, Blustajn J, Cabrol S, Amiel J, Hertz-Pannier L, Bertrand AM, Lyonnet S, Rappaport R, Netchine I
J Clin Endocrinol Metab 2005 Oct;90(10):5621-6. Epub 2005 Jul 19 doi: 10.1210/jc.2004-2474. PMID: 16030162

Diagnosis

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.
Starr LJ, Lindsay ME, Perry D, Gheewalla G, VanderLaan PA, Majid A, Strange C, Costea GC, Lungu A, Lin AE
Pediatr Dev Pathol 2022 Nov-Dec;25(6):611-623. Epub 2022 Sep 17 doi: 10.1177/10935266221079569. PMID: 36120950
Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions.
Oldenburg MS, Frisch CD, Lindor NM, Edell ES, Kasperbauer JL, O'Brien EK
Am J Otolaryngol 2015 Sep-Oct;36(5):636-41. Epub 2015 Apr 15 doi: 10.1016/j.amjoto.2015.04.005. PMID: 25940662
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes.
Snijders Blok C, Corsten-Janssen N, FitzPatrick DR, Romano C, Fichera M, Vitello GA, Willemsen MH, Schoots J, Pfundt R, van Ravenswaaij-Arts CM, Hoefsloot L, Kleefstra T
Am J Med Genet A 2014 Nov;164A(11):2843-8. Epub 2014 Sep 22 doi: 10.1002/ajmg.a.36680. PMID: 25251717
CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S
Hum Mol Genet 2014 Aug 15;23(16):4396-405. Epub 2014 Apr 4 doi: 10.1093/hmg/ddu156. PMID: 24705355
Solitary median maxillary central incisor (SMMCI) syndrome.
Hall RK
Orphanet J Rare Dis 2006 Apr 9;1:12. doi: 10.1186/1750-1172-1-12. PMID: 16722608Free PMC Article

Therapy

Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions.
Oldenburg MS, Frisch CD, Lindor NM, Edell ES, Kasperbauer JL, O'Brien EK
Am J Otolaryngol 2015 Sep-Oct;36(5):636-41. Epub 2015 Apr 15 doi: 10.1016/j.amjoto.2015.04.005. PMID: 25940662
The spectrum of clinical features in CHARGE syndrome.
Davenport SL, Hefner MA, Mitchell JA
Clin Genet 1986 Apr;29(4):298-310. doi: 10.1111/j.1399-0004.1986.tb01258.x. PMID: 2424647

Prognosis

Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions.
Oldenburg MS, Frisch CD, Lindor NM, Edell ES, Kasperbauer JL, O'Brien EK
Am J Otolaryngol 2015 Sep-Oct;36(5):636-41. Epub 2015 Apr 15 doi: 10.1016/j.amjoto.2015.04.005. PMID: 25940662
Solitary median maxillary central incisor (SMMCI) syndrome.
Hall RK
Orphanet J Rare Dis 2006 Apr 9;1:12. doi: 10.1186/1750-1172-1-12. PMID: 16722608Free PMC Article
Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome.
Hall RK, Bankier A, Aldred MJ, Kan K, Lucas JO, Perks AG
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1997 Dec;84(6):651-62. doi: 10.1016/s1079-2104(97)90368-1. PMID: 9431535

Clinical prediction guides

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.
Starr LJ, Lindsay ME, Perry D, Gheewalla G, VanderLaan PA, Majid A, Strange C, Costea GC, Lungu A, Lin AE
Pediatr Dev Pathol 2022 Nov-Dec;25(6):611-623. Epub 2022 Sep 17 doi: 10.1177/10935266221079569. PMID: 36120950
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes.
Snijders Blok C, Corsten-Janssen N, FitzPatrick DR, Romano C, Fichera M, Vitello GA, Willemsen MH, Schoots J, Pfundt R, van Ravenswaaij-Arts CM, Hoefsloot L, Kleefstra T
Am J Med Genet A 2014 Nov;164A(11):2843-8. Epub 2014 Sep 22 doi: 10.1002/ajmg.a.36680. PMID: 25251717
Solitary median maxillary central incisor (SMMCI) syndrome.
Hall RK
Orphanet J Rare Dis 2006 Apr 9;1:12. doi: 10.1186/1750-1172-1-12. PMID: 16722608Free PMC Article
CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development.
Pinto G, Abadie V, Mesnage R, Blustajn J, Cabrol S, Amiel J, Hertz-Pannier L, Bertrand AM, Lyonnet S, Rappaport R, Netchine I
J Clin Endocrinol Metab 2005 Oct;90(10):5621-6. Epub 2005 Jul 19 doi: 10.1210/jc.2004-2474. PMID: 16030162
Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome.
Hall RK, Bankier A, Aldred MJ, Kan K, Lucas JO, Perks AG
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1997 Dec;84(6):651-62. doi: 10.1016/s1079-2104(97)90368-1. PMID: 9431535

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