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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.
 
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]

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Relative macrocephaly
MedGen UID:
338607
Concept ID:
C1849075
Congenital Abnormality
A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Prominent supraorbital ridges
MedGen UID:
333982
Concept ID:
C1842060
Finding
Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Congenital Abnormality
The presence of developmental dysplasia of the nail.

Term Hierarchy

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

Recent clinical studies

Diagnosis

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
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
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
Morris CA, Palumbos JC, Carey JC
Am J Med Genet 1987 Jul;27(3):623-31. doi: 10.1002/ajmg.1320270315. PMID: 3631134

Therapy

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

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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