Dermatoglyphics is the scientific study of fingerprints, lines, mounts and shapes of hands, as distinct from the superficially similar pseudoscience of palmistry.
Camptodactyly is a medical condition that causes one or more fingers or toes to be permanently bent. It involves fixed flexion deformity of the proximal interphalangeal joints.
Urban–Rogers–Meyer syndrome, also known as Prader–Willi habitus, osteopenia, and camptodactyly or Urban syndrome, is an extremely rare inherited congenital disorder first described by Urban et al. (1979). It is characterized by genital anomalies, mental retardation, obesity, contractures of fingers, and osteoporosis, though further complications are known.
Goldberg–Shprintzen is a very rare connective tissue condition associated with mutations in KIAA1279 gene which encodes KIF-binding protein (KBP), a protein that may interact with microtubules and actin filaments. KBP may play a key role in cytoskeleton formation and neurite growth.
COACH syndrome, also known as Joubert syndrome with hepatic defect, is a rare autosomal recessive genetic disease. The name is an acronym of the defining signs: cerebellar vermis aplasia, oligophrenia, congenital ataxia, coloboma and hepatic fibrosis. The condition is associated with moderate intellectual disability. It falls under the category of a Joubart Syndrome-related disorder (JSRD).
Stocco dos Santos syndrome is an extremely rare multi-systemic genetic disorder which is present from birth. It is characterized by heart, skeletal, muscular abnormalities with accompanying intellectual disabilities.
Ectrodactyly with tibia aplasia/hypoplasia also known as cleft hand absent tibia is a very rare limb malformation syndrome which is characterized by ectrodactyly, and aplasia/hypoplasia of the tibia bone. Additional findings include cup-shaped ears, pre-postaxial polydactyly, and hypoplasia of the big toes, femur, patella, and ulnae bone. It is inherited as an autosomal dominant trait with reduced penetrance.
Macdermot-Winter syndrome is a very rare fatal genetic disorder which is characterized by pre-natal developmental delay, cranio-facial dysmorphisms, genitalia hypoplasia and congenital-onset seizures. Its prevalence is less than 1 in a million live births.
IVIC syndrome, also known as Instituto Venezolano de Investigaciónes Científicas syndrome or oculo-oto-radial syndrome is a very rare autosomal dominant limb malformation genetic disorder that is characterized by upper limb and ocular abnormalities and congenital hearing loss on both ears.
Saito–Kuba–Tsuruta syndrome, also known as Fibulo-ulnar hypoplasia-renal anomalies syndrome, is a very rare genetic disorder which is characterized by fibulo-ulnar dysplasia associated with renal abnormalities. It is associated with neo-natal respiratory failure soon after birth.
Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome is an extremely rare multi-systemic genetic disorder which is characterized by congenital ocular, muscular, and heart abnormalities. It was first described in the children of a consanguineous couple, and it is thought to be autosomal recessive disorder with variable expressity. No new cases have been described in medical literature since 1992.
Chudley–Mccullough syndrome is a rare genetic disorder which is characterized by bilateral congenital hearing loss associated with brain malformations. It is a type of syndromic deafness.
Du Pan syndrome, also known as fibular hypoplasia and complex brachydactyly is an extremely rare genetic disorder which is characterized by hypoplasia, aplasia or dysplasia of the fibula, under-developee/abnormally developed hands and feet and rather complex brachydactyly. Unlike other rare genetic disorders, Du Pan syndrome doesn't affect traits like intellect or the appearance of the head and trunk To this day, 18 cases have been reported in medical literature. This disorder is associated with mutations in the CDCP1 gene, in chromosome 20q11.2. The mode of inheritance varies family from family, but it is most commonly inherited in an autosomal recessive manner, rare cases have families where the mode of inheritance is autosomal dominant.
Camera–Marugo–Cohen syndrome, also known as Obesity, mental retardation, body asymmetry and muscle weakness syndrome is a very rare genetic disorder which is characterized by familial obesity, intellectual disabilities, body asymmetry, and muscular weakness. It is a type of syndromic obesity/obesity syndrome. 2 cases have been reported in medical literature
Waardenburg anophthalmia syndrome is a rare autosomal recessive genetic disorder which is characterized by either microphthalmia or anophthalmia, osseous synostosis, ectrodactylism, polydactylism, and syndactylism. So far, 29 cases from families in Brazil, Italy, Turkey, and Lebanon have been reported worldwide. This condition is caused by homozygous mutations in the SMOC1 gene, in chromosome 14.
Angel-shaped phalango-epiphyseal dysplasia, also known as peripheral dysostosis, is a rare type of osteochondrodysplasia which is characterized by angel-shaped middle phalanges of the fingers and generalized metaphyseal dysplasia/delayed osseous age. Additional findings include joint hypermobility, hypodontia, and hip osteoarthritis. According to OMIM, 10 cases from multiple families have been described in medical literature. It is thought to be inherited in an autosomal dominant manner. According to ORPHA, 20 cases have been reported.
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare genetic disorder which is characterized by osseous anomalies resulting in short stature and other afflictions.
Hall-Riggs syndrome is a rare genetic disorder that causes neurological issues and birth defects. People with Hall-Riggs syndrome usually have skeletal dysplasia, facial deformities, and intellectual disabilities. Only 8 cases from 2 families worldwide have been described in medical literature. It is an autosomal recessive genetic disorder, meaning both parents must carry the gene in order for their offspring to be affected.
Graham-Boyle-Troxell syndrome, also known as Cystic hamartoma of the lung and kidney, is an extremely rare congenital malformation which is characterized by benign hamartomatous cysts present in the lung and kidney. Symptoms include respiratory insufficiency, recurrent respiratory infections, and hypertension. Additional radiological features include hyperplastic nephromegaly, dysplastic medulla, and mesoblastic nephroma. Only three cases have been described in medical literature.
Spondyloenchondrodysplasia is the medical term for a rare spectrum of symptoms that are inherited following an autosomal recessive inheritance pattern. Skeletal anomalies are the usual symptoms of the disorder, although its phenotypical nature is highly variable among patients with the condition, including symptoms such as muscle spasticity or thrombocytopenia purpura. It is a type of immunoosseous dysplasia.
