Zori–Stalker–Williams syndrome

Classification	D OMIM: 600399; MeSH: C536728;
External resources	Orphanet: 2835;

Zori–Stalker–Williams syndrome
Zori–Stalker–Williams syndrome
Other names	Pectus excavatum, macrocephaly, short stature and dysplastic nail
	Zori–Stalker–Williams syndrome has an autosomal dominant pattern of inheritance.

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 .^[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]

References[]

^ ^a ^b ^c 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". Dysmorphology and Clinical Genetics. 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^{[permanent dead link]}

External links[]

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[omim-1] Online Mendelian Inheritance in Man (OMIM): Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails - 600399 - Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails

[zswad-2] Zori RT, Stalker HJ, Williams CA (1992). "A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails". Dysmorphology and Clinical Genetics. 6: 116–122.

[3] Zori Stalker Williams syndrome at NIH's Office of Rare Diseases

[orpha-4] "Pectus excavatum macrocephaly dysplastic nails". Orphanet.

[5] ORPHANET - About rare diseases - About orphan drugs^{[permanent dead link]}

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v t Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome
Short stature	1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome
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 syndromes	Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
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

Classification	D OMIM: 600399 MeSH: C536728
External resources	Orphanet: 2835