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Distal 17p13.3 microdeletion syndrome
Distal 17p13.3 microdeletion syndrome (distal monosomy 17p13.3, ORPHA:261257) is a rare partial monosomy of chromosome 17p13.3 sparing PAFAH1B1, causing growth retardation, developmental delay, macrocephaly, and brain anomalies without lissencephaly.
Distal 22q11.2 microdeletion syndrome
Distal 22q11.2 microdeletion syndrome (distal del(22)(q11.2), OMIM 611867) is a rare autosomal dominant chromosomal disorder from deletion of 22q11.2 distal to the DiGeorge region (LCR22-D to H), causing prematurity, growth and speech delay, mild intellectual disability, cardiac defects, and rhabdoid tumor risk when SMARCB1 is deleted.
Distal 7q11.23 microdeletion syndrome
Distal 7q11.23 microdeletion syndrome (distal del(7)(q11.23), OMIM 613729) is a rare autosomal dominant chromosomal disorder caused by deletion distal to the Williams-Beuren region, typically including HIP1 and YWHAG, causing epilepsy, developmental delay, and neurobehavioral abnormalities with incomplete penetrance.
Distal 7q11.23 microduplication syndrome
Distal 7q11.23 microduplication syndrome (dup7q11.23D, ORPHA:261102) is a rare chromosomal disorder duplicating HIP1 and YWHAG distal to the Williams-Beuren region, causing speech delay, ADHD, aggressiveness, and learning difficulties.
Distal anoctaminopathy
Distal anoctaminopathy (Miyoshi muscular dystrophy 3, MMD3) is a rare autosomal recessive distal myopathy from biallelic ANO5 mutations, with adult-onset asymmetric calf weakness, very high creatine kinase, and slow progression.
Distal arthrogryposis type 1
Distal arthrogryposis type 1 (DA1, digitotalar dysmorphism, AMCD1): autosomal dominant congenital contractures of hands and feet (camptodactyly, overlapping fingers, clubfoot) caused by TPM2, MYBPC1, TNNI2, TNNT3, or MYH3 mutations.
Distal arthrogryposis type 10
Distal arthrogryposis type 10 (DA10, congenital plantar contractures, short Achilles tendon, OMIM 187370) is a rare autosomal dominant disorder causing plantar flexion contractures and infant toe-walking, with TTN proposed as candidate gene.
Distal arthrogryposis type 5D
Distal arthrogryposis type 5D (DA5D, OMIM 615065) is a rare autosomal recessive ECEL1-related distal arthrogryposis with congenital hand and foot contractures, knee extension contractures, and asymmetric ptosis without ophthalmoplegia.
Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome
Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome, also called DAIPT (OMIM 617146, ORPHA:707937), is a rare autosomal recessive PIEZO2-related disorder with congenital contractures, progressive scoliosis, thumb deformity, and loss of proprioception and touch with preserved intellect.
Distal biceps tendon repair
Distal biceps tendon repair is a surgical procedure that reattaches a torn distal biceps tendon to the radial tuberosity at the elbow, restoring forearm flexion and supination strength after rupture.
Distal deletion 10q syndrome
Distal deletion 10q syndrome (distal monosomy 10q, 10qter deletion, OMIM 609625) is a rare terminal chromosome 10q deletion disorder with facial dysmorphism, growth retardation, cardiac and genital anomalies, and developmental delay.
Distal deletion 13q syndrome
Distal deletion 13q syndrome (distal monosomy 13q, ORPHA:1590, OMIM 602553) is a rare chromosomal disorder from partial deletion of 13q, often involving band 13q32 and ZIC2, causing intellectual disability, CNS, ocular, and craniofacial anomalies.
Distal deletion 15q syndrome
Distal deletion 15q syndrome (distal monosomy 15q, 15q26 deletion, Drayer's syndrome) is a rare autosomal dominant chromosomal disorder from terminal 15q26-qter deletion, causing growth restriction, developmental delay, intellectual disability, limb anomalies, and heart defects.
Distal deletion 3p syndrome
Distal deletion 3p syndrome (3p- syndrome, distal monosomy 3p, OMIM 613792) is a rare chromosomal disorder from partial deletion of chromosome 3p, causing intellectual disability, growth retardation, and craniofacial dysmorphism; fewer than 1 per million, autosomal dominant.
Distal deletion 6p syndrome
Distal deletion 6p syndrome, also called 6p25 or 6p subtelomere deletion syndrome (MIM 612582), is a rare chromosomal disorder from terminal loss of chromosome 6p25 including FOXC1, causing eye anterior segment defects, hearing loss, heart and brain malformations, and developmental delay.
Distal deletion 9p syndrome
Distal deletion 9p syndrome (distal monosomy 9p, ORPHA:1642) is an ultra-rare chromosomal disorder from partial deletion of chromosome 9p, causing intellectual disability, trigonocephaly, digital and genitourinary anomalies, and gonadoblastoma risk.
Distal duplication 10q syndrome
Distal duplication 10q syndrome, also called distal trisomy 10q or trisomy 10qter, is a rare chromosomal disorder (under 1 in 1,000,000; about 40 cases) with growth retardation, characteristic facies, hypotonia, and developmental delay.
Distal duplication 11q syndrome
Distal duplication 11q syndrome (distal trisomy 11q, ORPHA:96103) is a rare chromosomal anomaly from partial duplication of chromosome 11q's long arm, marked by craniofacial dysmorphism, intellectual disability, seizures, and heart, skeletal, and genital anomalies; distinct from Emanuel syndrome.
Distal duplication 13q syndrome
Distal duplication 13q syndrome, also called distal trisomy 13q, is a rare chromosomal disorder caused by an extra copy of the end of chromosome 13's long arm, causing intellectual disability and polydactyly.
Distal duplication 17q syndrome
Distal duplication 17q syndrome (distal trisomy 17q, ORPHA:3379) is a rare chromosomal disorder from an extra copy of distal 17q, usually inherited from a balanced translocation carrier, causing intellectual disability, short stature, craniofacial dysmorphism, and skeletal anomalies in about 30 reported cases.
Distal duplication 19q syndrome
Distal duplication 19q syndrome (distal trisomy 19q, trisomy 19qter, ORPHA:1717) is a rare chromosomal anomaly with low birth weight, developmental delay, intellectual disability, craniofacial dysmorphism, seizures, and congenital malformations; prevalence under 1 in 1,000,000.
Distal duplication 22q syndrome
Distal duplication 22q syndrome (distal trisomy 22q, ORPHA 96109) is a rare chromosomal disorder from partial duplication of chromosome 22q, causing intellectual disability, developmental delay, growth deficiency, hypotonia, and craniofacial dysmorphism.
Distal duplication 2q syndrome
Distal duplication 2q syndrome (distal trisomy 2q, trisomy 2qter, ORPHA:96094) is a rare chromosomal disorder from partial duplication of chromosome 2q's distal long arm, causing psychomotor delay, mild intellectual disability, facial dysmorphism, and camptodactyly.
Distal duplication 3p syndrome
Distal duplication 3p syndrome (distal trisomy 3p, telomeric duplication 3p, trisomy 3pter; ORPHA:96071) is a rare chromosomal disorder from partial duplication of chromosome 3p, causing craniofacial dysmorphism, intellectual disability, cardiac and urogenital anomalies, with under 1 per million prevalence.
Distal duplication 4q syndrome
Distal duplication 4q syndrome (distal trisomy 4q, trisomy 4qter) is a rare chromosomal disorder from partial duplication of chromosome 4's long arm, causing intellectual disability, craniofacial dysmorphism, seizures, and digital anomalies, with 4q33-4q34 as the critical region.
Distal duplication 5q syndrome
Distal duplication 5q syndrome (distal trisomy 5q, trisomy 5qter, ORPHA:96097) is a rare chromosomal disorder from partial duplication of 5q31-qter, causing short stature, moderate intellectual disability, craniofacial dysmorphism, and cardiac, skeletal, and genital anomalies. Distinct from the hematologic 5q- deletion syndrome.
Distal gastrectomy
Distal gastrectomy is an operation that removes the lower portion of the stomach, including the pylorus, performed mainly for gastric cancer of the middle or lower stomach.
Distal hereditary motor neuropathy type 2
Distal hereditary motor neuropathy type 2 (HMN2, HMND2) is an autosomal dominant motor neuron disorder, usually caused by HSPB1 or HSPB8 variants, causing progressive distal leg weakness with normal sensory conduction.
Distal hereditary motor neuropathy type 5
Distal hereditary motor neuropathy type 5 (dHMN5, distal HMN V) is a rare autosomal dominant motor neuron disorder causing hand-muscle wasting, especially thenar and first dorsal interosseus, cold-induced hand cramps, and sometimes foot deformity; mainly caused by BSCL2 and GARS1 variants, allelic with CMT2D, with normal life expectancy.
Distal hereditary motor neuropathy type 7
Distal hereditary motor neuropathy type 7 (dHMN7, distal spinal muscular atrophy with vocal cord paralysis) is a rare autosomal dominant motor neuropathy with hand (thenar) wasting, vocal cord paresis, and facial weakness; forms map to 2q14 (SLC5A7), DCTN1, and TRPV4.