Zori–Stalker–Williams syndrome

Zori–Stalker–Williams syndrome
Classification and external resources
OMIM	600399

Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails,^[1] is a rare autosomal dominant^[2] congenital disorder associated with a range of features such as pectus excavatum, macrocephaly and dysplastic nails, familial short stature, developmental delay and distinctive facies.^[3]^[4] Further signs are known to be associated with this syndrome.^[5]

The name originates from the researchers who first defined and noticed the syndrome and its clinical signs.^[1]

It is believed that the syndrome is inherited in an autosomal dominant pattern, though there has been no new research undertaken for this rare disease.^[1]

Zori–Stalker–Williams syndrome has an autosomal dominant pattern of inheritance.

References

1 2 3 Online Mendelian Inheritance in Man (OMIM) Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails -600399 - Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
↑ Zori RT, Stalker HJ, Williams CA (1992). "A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails". Dysmorph Clin Genet.It is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Zori Stalker Williams syndrome, or a subtype of Zori Stalker Williams syndrome, affects less than 200,000 people in the US population or one person per 2000 people. 6: 116–122.
↑ Zori Stalker Williams syndrome at NIH's Office of Rare Diseases
↑ "Pectus excavatum macrocephaly dysplastic nails". Orphanet.
↑ ORPHANET - About rare diseases - About orphan drugs

Congenital abnormality syndromes (Q87, 759.7)

Craniofacial

Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome

other:	Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome

Short stature

Limbs

Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome

Gastrulation/mesoderm:	Caudal regression syndrome Ectromelia Sirenomelia VACTERL association

Overgrowth

Laurence–Moon–Bardet–Biedl

Combined/other,
known locus

2 (Feingold syndrome)
3 (Zimmermann–Laband syndrome)
4/13 (Fraser syndrome)
8 (Branchio-oto-renal syndrome, CHARGE syndrome)
12 (Keutel syndrome, Timothy syndrome)
15 (Marfan syndrome)
19 (Donohue syndrome)
Multiple
- Fryns syndrome

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