IllnessSmall stature, differential diagnosis

NGS +

[Sanger]

Short stature is defined as a height below the 3rd percentile, usually due to a reduced growth rate or a shortened growth period. Microsomia is particularly noticeable in infancy and during puberty, as this is when the growth spurts are normally greater. The spectrum of causes is extremely heterogeneous. Endogenous causes include genetic endocrine disorders, chromosomal anomalies, metabolic diseases and syndromal dwarfism.

Reference: https://pubmed.ncbi.nlm.nih.gov/28476223/

• Alias: Short stature
• Allelic: Agammaglobulinemia 7, AR (PIK3R1)
• Allelic: Agammaglobulinemia, XL 1 (BTK)
• Allelic: Aplastic anemia (NBN)
• Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
• Allelic: Boucher-Neuhauser syndrome (PNPLA6)
• Allelic: Brachydactyly, type B1 (ROR2)
• Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
• Allelic: CATSHL syndrome (FGFR3)
• Allelic: Cardiomyopathy, dilated, 1NN (RAf1)
• Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
• Allelic: Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
• Allelic: Diabetes mellitus, insulin-resistant, with acanthosis nigricans (INSR)
• Allelic: Fibromatosis, gingival, 1 (SOS1)
• Allelic: Gigantism due to GHRF hypersecretion (GHRH)
• Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
• Allelic: Hartsfield syndrome (FGFR1)
• Allelic: Hypercholesterolemia, familial, modifier of (GHR)
• Allelic: Hyperinsulinemic hypoglycemia, familial, 5 (INSR)
• Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
• Allelic: Immunodeficiency 36 (PIK3R1)
• Allelic: Increased responsiveness to growth hormone (GRH)
• Allelic: Jackson-Weiss syndrome (FGFR1)
• Allelic: Jawad syndrome (RBBP8) 3
• Allelic: Juvenile myelomonocytic leukemia (CBL)
• Allelic: LADD syndrome (FGFR3)
• Allelic: Leukemia, acute lymphoblastic (NBN)
• Allelic: Microcephaly 6, primary, AR (CENPJ)
• Allelic: Microphthalmia, syndromic 5 (OTX2)
• Allelic: Monosomy 7 myelodysplasia and leukemia syndrome 2 (SAMD9)
• Allelic: Muenke syndrome (FGFR3)
• Allelic: Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
• Allelic: Pfeiffer syndrome (FGFR1)
• Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
• Allelic: Polydactyly, preaxial, type IV (GLI3)
• Allelic: Premature ovarian failure 11 (ERCC6)
• Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
• Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
• Allelic: Septooptic dysplasia (HESX1)
• Allelic: Spastic paraplegia 39, AR (PNPLA6)
• Allelic: Trigonocephaly 1 (FGFR1)
• Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Allelic: UV-sensitive syndrome 1 (ERCC6)
• Allelic: UV-sensitive syndrome 2 (ERCC8)
• Allelic: Wilms tumor (BRCA2)
• Allelic: Xeroderma pigmentosum, group F (ERCC4)
• Allelic: Xeroderma pigmentosum, type F
• 3-M syndrome 1 (CUL7)
• 3-M syndrome 2 (OBSL1)
• 3-M syndrome 3 (CCDC8)
• Aarskog-Scott syndrome (FGD1)
• Achondroplasia (FGFR3)
• Acid-labile subunit, deficiency of (IGFALS)
• Acromesomelic dysplasia, Maroteaux type (NPR2)
• Bloom syndrome (BLM)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Cardiofaciocutaneous syndrome 3 (MAP3K1)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Cerebrooculofacioskeletal syndrome 1 (ERCC6)
• Cockayne syndrome (ERCC4)
• Cockayne syndrome, type A (ERCC8)
• Cockayne syndrome, type B (ERCC6)
• Coffin-Lowry syndrome (RPS6KA3)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Cornelia de Lange syndrome 5 (HDAC8)
• Costello syndrome (HRAS)
• Crouzon syndrome with acanthosis nigricans (FGFR3)
• Culler-Jones syndrome (GLI2)
• De Sanctis-Cacchione syndrome (ERCC6)
• Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
• Epiphyseal chondrodysplasia, Miura type (NPR2)
• Fanconi anemia, complementation group A-L (FANCA-L)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group J (BRIP1)
• Fanconi anemia, complementation group N (PALB2)
• Fanconi anemia, complementation group P (SLX4)
• Fanconi anemia, complementation group Q (ERCC4)
• Fanconi anemia, complementation group T (UBE2T)
• Floating-Harbor syndrome (SRCAP)
• Growth hormone deficiency with pituitary anomalies (HESX1)
• Growth hormone deficiency, isolated, type IA, IB, II (GH1)
• Growth hormone deficiency, isolated, type IV (GHRHR)
• Growth hormone insensitivity with immunodeficiency (STAT5B)
• Growth hormone insensitivity, partial (GHR)
• Growth retardation with deafness + mental retardation due to IGF1 deficiency (IGF1)
• Holoprosencephaly 9 (GLI2)
• Hypochondroplasia (FGFR3)
• Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
• IMAGE syndrome (CDKN1C)
• Insulin-like growth factor I, resistance to (IGF1R)
• Intellectual developmental disorder, XL 19 (RPS6KA3)
• Intellectual developmental disorder, XL, syndromic, 35 (RPL10)
• Intellectual developmental disorder, XL, with isolated growth hormone deficiency (SOX3)
• Isolated growth hormone deficiency due to defect in GHRF (GHRH) 1
• Isolated growth hormone deficiency, type III, with agammaglobulinemia (BTK)
• KBG syndrome (ANKRD11)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Kenny-Caffey syndrome, type (TBCE)
• Kowarski syndrome (GH1)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• LIG4 syndrome (LIG4)
• Langer mesomelic dysplasia (SHOX)
• Laron dwarfism (GHR)
• Laurence-Moon syndrome (PNPLA6)
• Leprechaunism (INSR)
• Leri-Weill dyschondrosteosis (SHOX)
• Lowry-Wood syndrome (RNU4ATAC)
• MIRAGE syndrome (SAMD9)
• Meier-Gorlin syndrome 1 (ORC1)
• Meier-Gorlin syndrome 2 (ORC4)
• Meier-Gorlin syndrome 3 (ORC6)
• Meier-Gorlin syndrome 4 (CDT1)
• Meier-Gorlin syndrome 5 (CDC6)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menke-Hennekam syndrome 2 (EP300)
• Mental retardation, XL syndromic 16 (FGD1)
• Metachondromatosis (PTPN11)
• Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
• Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
• Microcephaly, growth restriction + increased sister chromatid exchange 2 (TOP3A)
• Microphthalmia, syndromic 3 (SOX2)
• Mulibrey nanism (TRIM37)
• Mungan syndrome (RAD21)
• Nijmegen breakage syndrome (NBN)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• Noonan syndrome 2 (LZTR1)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 6 (NRAS)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome 9 (SOS2)
• Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
• Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
• Noonan syndrome-like with loose anagen hair 1 (SHOC2)
• Oliver-McFarlane syndrome (PNPLA6)
• Osteoglophonic dysplasia (FGFR1)
• Pallister-Hall syndrome (GLI3)
• Panhypopituitarism, XL (SOX3)
• Pituitary hormone deficiency, combined, 1 (POUF1)
• Pituitary hormone deficiency, combined, 2 (PROP1)
• Pituitary hormone deficiency, combined, 3 (LHX3)
• Pituitary hormone deficiency, combined, 4 (LHX4)
• Pituitary hormone deficiency, combined, 5 (HESX1)
• Pituitary hormone deficiency, combined, 6 (OTX2)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 5 (TOP3A)
• Rabson-Mendenhall syndrome (INSR)
• Robinow syndrome, AD 1 (WNT5A)
• Robinow syndrome, AD 2 (DVL1)
• Robinow syndrome, AD 3 (DVL3)
• Robinow syndrome, AR (ROR2)
• Roifman syndrome (RNU4ATAC)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Rubinstein-Taybi syndrome 2 (EP300)
• SADDAN (FGFR3)
• SHORT syndrome (PIK3R1)
• Seckel syndrome 2 (RBBP8)
• Seckel syndrome 4 (CENPJ)
• Short stature with microcephaly and distinctive facies (CRIPT)
• Short stature with nonspecific skeletal abnormalities (NPR2)
• Short stature, Dauber-Argente type (PAPPA2)
• Short stature, advanced bone age +/- early-onset osteoarthritis +/- osteochondritis dissecans (ACAN)
• Short stature, idiopathic familial (SHOX)
• Short stature, microcephaly + endocrine dysfunction (XRCC4)
• Short stature, rhizomelic with microcephaly, micrognathia, developmental delay (ARCN1)
• Silver-Russell syndrome 3 (IGF2)
• Silver-Russell syndrome 4 (PLAG1)
• Silver-Russell syndrome 5 (HMGA2)
• Spondyloepimetaphyseal dysplasia, aggrecan type (ACAN)
• Spondyloepiphyseal dysplasia, Kimberley type (ACAN
• Thanatophoric dysplasia, type I + II (FGFR3)
• Werner syndrome (WRN)
• XFE progeroid syndrome (ERCC4)