29 articles
15q overgrowth syndrome
15q overgrowth syndrome (ORPHA:314585, OMIM 614846) is a rare partial trisomy/tetrasomy of distal chromosome 15q, often involving IGF1R, causing overgrowth, characteristic facies, renal anomalies, and learning difficulties.
3M syndrome
3M syndrome (Yakut short stature syndrome, Le Merrer syndrome) is a rare autosomal recessive primordial growth disorder caused by CUL7, OBSL1, or CCDC8 variants, causing severe short stature with normal intelligence; distinct from the immunotherapy Triple M syndrome.
Alazami syndrome
Alazami syndrome (OMIM 615071), or microcephalic primordial dwarfism Alazami type, is an ultra-rare autosomal recessive LARP7-related disorder with severe growth restriction, intellectual disability, and distinctive facial features.
CLOVES syndrome
CLOVES syndrome (CLOVE syndrome, congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome) is a rare sporadic PROS overgrowth disorder caused by mosaic PIK3CA mutations, with congenital fatty overgrowth, truncal vascular malformations, epidermal nevi, and spinal anomalies; treated with alpelisib.
Cohen-Gibson syndrome
Cohen-Gibson syndrome (EED-related overgrowth, OMIM 617561) is a rare autosomal dominant PRC2-related overgrowth disorder caused by EED variants, causing tall stature, macrocephaly, advanced bone age, and mild-to-severe intellectual disability.
Congenital infiltrating lipomatosis of the face
Congenital infiltrating lipomatosis of the face (CIL-F, facial infiltrating lipomatosis) is a rare PIK3CA-related overgrowth disorder causing unilateral facial fat infiltration, bony hypertrophy, early tooth eruption, and high surgical recurrence.
Costello syndrome
Costello syndrome (faciocutaneoskeletal syndrome, FCS syndrome) is a rare RASopathy caused by activating germline HRAS mutations, with failure to thrive, coarse facies, heart disease, intellectual disability, and about 15% lifetime cancer risk, the highest among RASopathies.
DNMT3A-related microcephalic dwarfism
DNMT3A-related microcephalic dwarfism, also called Heyn-Sproul-Jackson syndrome (HESJAS, OMIM 618724), is a rare autosomal dominant disorder from de novo gain-of-function PWWP-domain DNMT3A variants, causing microcephaly, severe growth failure, and developmental delay, the reciprocal phenotype of Tatton-Brown-Rahman overgrowth syndrome.
Ear-patella-short stature syndrome
Ear-patella-short stature syndrome, or Meier-Gorlin syndrome (MGORS), is a rare microcephalic primordial dwarfism with microtia, absent or small patellae, and short stature, caused by variants in 13 DNA replication genes including ORC1, CDT1, and CDC45.
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
GLOW syndrome (global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome; OMIM 618272) is a rare mosaic DICER1 RNase IIIb overgrowth syndrome with lung cysts, nephromegaly, bilateral Wilms tumor, and dysmorphism.
Imagawa-Matsumoto syndrome
Imagawa-Matsumoto syndrome (IMMAS, SUZ12-related overgrowth syndrome, OMIM 618786) is a rare autosomal dominant PRC2-related overgrowth disorder caused by heterozygous SUZ12 variants, with fewer than 20 reported cases.
Isolated hemihyperplasia
Isolated hemihyperplasia, also called isolated hemihypertrophy and now isolated lateralized overgrowth (OMIM 235000), is a rare asymmetric overgrowth of one side or region of the body, with raised childhood risk of Wilms tumor and hepatoblastoma.
Kosaki overgrowth syndrome
Kosaki overgrowth syndrome (KOGS, OMIM 616592), a rare PDGFRB gain-of-function overgrowth disorder with tall stature, fragile skin, white matter lesions, and vascular aneurysms; distinct from CDC42-related Takenouchi-Kosaki syndrome.
Lower limb hypertrophy
Lower limb hypertrophy (ORPHA:295051, ICD-11 LB97.3) is a rare genetic, non-syndromic embryonic developmental disorder causing unilateral or bilateral overgrowth of leg bones and/or soft tissues, distinguished from Klippel-Trénaunay syndrome and macrodystrophia lipomatosa.
Luscan-Lumish syndrome
Luscan-Lumish syndrome, also called SETD2-related overgrowth syndrome (OMIM 616831), is a rare autosomal dominant disorder caused by SETD2 variants, featuring macrocephaly, postnatal overgrowth, obesity, developmental delay, autism, seizures, and Chiari I malformation.
Malan overgrowth syndrome
Malan overgrowth syndrome (Malan syndrome, formerly Sotos syndrome 2), a rare autosomal dominant overgrowth disorder from NFIX haploinsufficiency at 19p13.2, causing macrocephaly, postnatal overgrowth, intellectual disability, and anxiety.
Marshall-Smith syndrome
Marshall-Smith syndrome (MSS, OMIM 602535, ORPHA:561), also called accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome, is an ultra-rare autosomal dominant NFIX disorder with advanced bone maturation, airway obstruction, and intellectual disability.
Megalencephaly-capillary malformation-polymicrogyria syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP, M-CM, OMIM 602501) is a rare PIK3CA-mosaic overgrowth disorder with megalencephaly, polymicrogyria, and cutaneous capillary malformations, sporadic, present at birth.
Microcephalic osteodysplastic primordial dwarfism type II
MOPDII, or Majewski osteodysplastic primordial dwarfism type II, is a rare autosomal recessive PCNT-related skeletal dysplasia with extreme short stature, microcephaly, abnormal teeth, insulin resistance, and global vascular disease including moyamoya and aneurysms.
Microcephalic osteodysplastic primordial dwarfism types I and III
MOPD types I and III, or Taybi-Linder syndrome, a severe autosomal recessive primordial dwarfism from RNU4ATAC minor-spliceosome mutations on 2q14.2, causing microcephaly, brain malformations, skeletal dysplasia, and life expectancy often under 12 months.
MOMO syndrome
MOMO syndrome (OMIM 157980) is an ultra-rare genetic overgrowth/obesity syndrome first described in 1993, defined by macrocephaly, obesity, intellectual disability, and ocular abnormalities such as retinal coloboma; only about eight cases are reported and its genetic cause is unknown.
Perlman syndrome
Perlman syndrome is a rare autosomal recessive congenital overgrowth disorder caused by DIS3L2 gene variants, marked by large body size, kidney abnormalities, and frequent death in the newborn period.
Seckel syndrome
Seckel syndrome (bird-headed dwarfism, OMIM 210600) is a rare autosomal recessive microcephalic primordial dwarfism with prenatal-onset short stature, bird-headed facies, and intellectual disability, caused by genes such as ATR, CENPJ, and CEP152.
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
SOFT syndrome (MIM#614813), short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, is a rare autosomal-recessive primordial dwarfism ciliopathy caused by biallelic POC1A variants, with prenatal-onset severe short stature, nail and hair anomalies, insulin resistance, and hepatic steatosis.
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome is a rare X-linked congenital disorder, seen mainly in males, causing overgrowth before and after birth, distinctive facial features, birth defects, and a raised tumor risk.
Tall stature-intellectual disability-renal anomalies syndrome
Tall stature-intellectual disability-renal anomalies syndrome, also called Thauvin-Robinet-Faivre syndrome (TROFAS), is a rare autosomal recessive overgrowth disorder caused by biallelic loss-of-function variants in the FIBP gene.
Tatton-Brown-Rahman syndrome
Tatton-Brown-Rahman syndrome (DNMT3A overgrowth syndrome, TBRS) is a rare autosomal dominant disorder caused by DNMT3A variants, causing overgrowth, mild-to-severe intellectual disability, hypotonia, joint hypermobility, autism features, and possible leukemia risk.
Weaver syndrome
Weaver syndrome, also called EZH2-related overgrowth syndrome or Weaver-Smith syndrome, is a rare autosomal dominant overgrowth disorder caused by EZH2 mutations, with tall stature, advanced bone age, distinctive facies, mild intellectual disability, and possible neuroblastoma risk.
Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome, OMIM 264090): ultra-rare autosomal recessive progeroid disorder present at birth, caused by biallelic POLR3A RNA polymerase III variants, with growth retardation, lipodystrophy, sparse hair, and natal teeth.