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15 relations: Adducted thumb syndrome, Antley–Bixler syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Clinodactyly, Congenital contractural arachnodactyly, Fibroblast growth factor receptor 2, Fryns syndrome, Knuckle pads, Liebenberg syndrome, Loeys–Dietz syndrome, Marden–Walker syndrome, Nablus mask-like facial syndrome, Proteoglycan 4, Weaver syndrome, 2p15-16.1 microdeletion syndrome.
Adducted thumb syndrome
Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs.
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Antley–Bixler syndrome
Antley–Bixler syndrome, also called trapezoidocephaly-synostosis syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.
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Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare genetic condition due to a mutation in the gene proteoglycan 4 (PRG4) - a chondroitin sulfate proteoglycan that acts as a lubricant for the cartilage surfaces.
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Clinodactyly
Clinodactyly (from the Ancient Greek κλίνειν klínein meaning "to bend" and δάκτυλος dáktulos meaning "digit") is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger").
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Congenital contractural arachnodactyly
Congenital Contractural Arachnodactyly (CCA, Beals syndrome) is a rare congenital connective tissue disorder.
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Fibroblast growth factor receptor 2
Fibroblast growth factor receptor 2 (FGFR2) also known as CD332 (cluster of differentiation 332) is a protein that in humans is encoded by the FGFR2 gene residing on chromosome 10.
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Fryns syndrome
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period.
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Knuckle pads
Knuckle pads (also known as "Heloderma", meaning similar to the skin of the Gila monster lizard for which it is named) are circumscribed, keratotic, fibrous growths over the dorsa of the interphalangeal joints.
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Liebenberg syndrome
Liebenberg Syndrome is a rare autosomal genetic disease that involves a deletion mutation upstream of the PITX1 gene, which is one that's responsible for the body's organization, specifically in forming lower limbs.
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Loeys–Dietz syndrome
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder.
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Marden–Walker syndrome
Marden–Walker syndrome (MWS) is a rare autosomal recessive congenital disorder.
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Nablus mask-like facial syndrome
Nablus mask-like facial syndrome is a microdeletion syndrome triggered by a deletion at chromosome 8 q22.1 that causes a mask-like facial appearance in those affected.
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Proteoglycan 4
Proteoglycan 4 or lubricin is a proteoglycan that in humans is encoded by the PRG4 gene.
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Weaver syndrome
Weaver syndrome (also called Weaver-Smith syndrome) is an extremely rare congenital disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years.
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2p15-16.1 microdeletion syndrome
2p15-16.1 microdeletion is a rare genetic disorder caused by a small deletion in the short arm of human chromosome 2.
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