Brachydactyly: Congenital anomaly of abnormally short fingers or toes.Hand Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.Foot Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.Limb Deformities, Congenital: Congenital structural deformities of the upper and lower extremities collectively or unspecified.Receptor Tyrosine Kinase-like Orphan Receptors: A family of cell surface receptors that were originally identified by their structural homology to neurotropic TYROSINE KINASES and referred to as orphan receptors because the associated ligand and signaling pathways were unknown. Evidence for the functionality of these proteins has been established by experiments showing that disruption of the orphan receptor genes results in developmental defects.Toe Phalanges: Bones that make up the SKELETON of the TOES, consisting of two for the great toe, and three for each of the other toes.Growth Differentiation Factor 5: A growth differentiation factor that plays a role in early CHONDROGENESIS and joint formation.Fibrous Dysplasia, Polyostotic: FIBROUS DYSPLASIA OF BONE affecting several bones. When melanotic pigmentation (CAFE-AU-LAIT SPOTS) and multiple endocrine hyperfunction are additionally associated it is referred to as Albright syndrome.Synostosis: A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. (Dorland, 27th ed)Maxillofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.Syndrome: A characteristic symptom complex.Abnormalities, MultiplePedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Foot Bones: The TARSAL BONES; METATARSAL BONES; and PHALANGES OF TOES. The tarsal bones consists of seven bones: CALCANEUS; TALUS; cuboid; navicular; internal; middle; and external cuneiform bones. The five metatarsal bones are numbered one through five, running medial to lateral. There are 14 phalanges in each foot, the great toe has two while the other toes have three each.Pseudohypoparathyroidism: A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.Foot: The distal extremity of the leg in vertebrates, consisting of the tarsus (ANKLE); METATARSUS; phalanges; and the soft tissues surrounding these bones.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Bone Morphogenetic Protein Receptors, Type I: A subtype of bone morphogenetic protein receptors with high affinity for BONE MORPHOGENETIC PROTEINS. They can interact with and undergo PHOSPHORYLATION by BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II. They signal primarily through RECEPTOR-REGULATED SMAD PROTEINS.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Hand: The distal part of the arm beyond the wrist in humans and primates, that includes the palm, fingers, and thumb.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Bone Morphogenetic Proteins: Bone-growth regulatory factors that are members of the transforming growth factor-beta superfamily of proteins. They are synthesized as large precursor molecules which are cleaved by proteolytic enzymes. The active form can consist of a dimer of two identical proteins or a heterodimer of two related bone morphogenetic proteins.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)BerlinMolecular Medicine: The field of medicine concerned with understanding the biochemical basis of health and disease and involved in developing diagnostic and therapeutic methods that utilize MOLECULAR BIOLOGY techniques.GermanyPharmacology, Clinical: The branch of pharmacology that deals directly with the effectiveness and safety of drugs in humans.Nephrology: A subspecialty of internal medicine concerned with the anatomy, physiology, and pathology of the kidney.Molecular Biology: A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.Hypophosphatasia: A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)Kleine-Levin Syndrome: A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)De Lange Syndrome: A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)Myasthenia Gravis, Neonatal: A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)Hypersomnolence, Idiopathic: A sleep disorder of central nervous system origin characterized by prolonged nocturnal sleep and periods of daytime drowsiness. Affected individuals experience difficulty with awakening in the morning and may have associated sleep drunkenness, automatic behaviors, and memory disturbances. This condition differs from narcolepsy in that daytime sleep periods are longer, there is no association with CATAPLEXY, and the multiple sleep latency onset test does not record sleep-onset rapid eye movement sleep. (From Chokroverty, Sleep Disorders Medicine, 1994, pp319-20; Psychiatry Clin Neurosci 1998 Apr:52(2):125-129)Addison Disease: An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES.Myasthenia Gravis: A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the NEUROMUSCULAR JUNCTION, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)Thumb: The first digit on the radial side of the hand which in humans lies opposite the other four.HSC70 Heat-Shock Proteins: A constitutively expressed subfamily of the HSP70 heat-shock proteins. They preferentially bind and release hydrophobic peptides by an ATP-dependent process and are involved in post-translational PROTEIN TRANSLOCATION.Dictionaries, MedicalDictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Dictionaries, ChemicalToes: Any one of five terminal digits of the vertebrate FOOT.Paleopathology: The study of disease in prehistoric times as revealed in bones, mummies, and archaeologic artifacts.Nasal Bone: Either one of the two small elongated rectangular bones that together form the bridge of the nose.Parietal Bone: One of a pair of irregularly shaped quadrilateral bones situated between the FRONTAL BONE and OCCIPITAL BONE, which together form the sides of the CRANIUM.Mandibular Condyle: The posterior process on the ramus of the mandible composed of two parts: a superior part, the articular portion, and an inferior part, the condylar neck.Cleft Palate: Congenital fissure of the soft and/or hard palate, due to faulty fusion.Jaw Abnormalities: Congenital absence of or defects in structures of the jaw.Skeleton: The rigid framework of connected bones that gives form to the body, protects and supports its soft organs and tissues, and provides attachments for MUSCLES.