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Pectus excavatum-macrocephaly-dysplastic nails syndrome

MedGen UID:
373902
•Concept ID:
C1838160
•
Disease or Syndrome
Synonyms: Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails; Pectus excavatum, macrocephaly and dysplastic nails; Zori Stalker Williams syndrome
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010883
OMIM®: 600399
Orphanet: ORPHA2835

Definition

Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPectus excavatum-macrocephaly-dysplastic nails syndrome

Recent clinical studies

Diagnosis

EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.
Torii C, Izumi K, Nakajima H, Takahashi T, Kosaki K
Congenit Anom (Kyoto) 2007 Mar;47(1):49-52. doi: 10.1111/j.1741-4520.2006.00140.x. PMID: 17300690
Klinefelter's syndrome presenting with leg ulcers.
De Morentin HM, Dodiuk-Gad RP, Brenner S
Skinmed 2004 Sep-Oct;3(5):274-8. doi: 10.1111/j.1540-9740.2004.03005.x. PMID: 15365265
A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family.
Behmel A, Plöchl E, Rosenkranz W
Am J Med Genet 1988 May-Jun;30(1-2):275-85. doi: 10.1002/ajmg.1320300129. PMID: 3177454
Delineation of the male phenotype in carniofrontonasal syndrome.
Morris CA, Palumbos JC, Carey JC
Am J Med Genet 1987 Jul;27(3):623-31. doi: 10.1002/ajmg.1320270315. PMID: 3631134

Therapy

Surgical repair of pectus excavatum.
Shamberger RC, Welch KJ
J Pediatr Surg 1988 Jul;23(7):615-22. doi: 10.1016/s0022-3468(88)80629-8. PMID: 3204460

Clinical prediction guides

Delineation of the male phenotype in carniofrontonasal syndrome.
Morris CA, Palumbos JC, Carey JC
Am J Med Genet 1987 Jul;27(3):623-31. doi: 10.1002/ajmg.1320270315. PMID: 3631134

Supplemental Content

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