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Neonatal short-limb short stature

MedGen UID:
337984
Concept ID:
C1850171
Finding
Synonyms: Dwarfism, neonatal short-limbed; Dwarfism, short limbed, recognizable at birth; Short limb dwarfism recognizable at birth; Short-limb dwarfism identifiable at birth; Short-limb dwarfism identifiable neonatally; Short-limbed dwarfism identifiable at birth
 
HPO: HP:0008921

Definition

A type of short-limbed dwarfism that is manifest beginning in the neonatal period. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Neonatal short-limb short stature

Conditions with this feature

Achondroplasia
MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality
Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis.
Ellis-van Creveld syndrome
MedGen UID:
8584
Concept ID:
C0013903
Disease or Syndrome
Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals (summary by Ruiz-Perez et al., 2000). The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (604831) or in the EVC2 gene (607261) (Ruiz-Perez et al., 2003, Galdzicka et al., 2002).
Diastrophic dysplasia
MedGen UID:
113103
Concept ID:
C0220726
Disease or Syndrome
Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion, the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence.
Metaphyseal chondrodysplasia, McKusick type
MedGen UID:
67398
Concept ID:
C0220748
Congenital Abnormality
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.
Achondrogenesis, type IB
MedGen UID:
78547
Concept ID:
C0265274
Congenital Abnormality
Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton. The face is flat, the neck is short, and the soft tissue of the neck may be thickened. Death occurs prenatally or shortly after birth.
Osteogenesis imperfecta type III
MedGen UID:
78664
Concept ID:
C0268362
Disease or Syndrome
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
Rolland-Debuqois syndrome
MedGen UID:
98145
Concept ID:
C0432209
Disease or Syndrome
The dyssegmental dysplasias are lethal forms of neonatal short-limbed dwarfism. Handmaker et al. (1977) coined the term 'dyssegmental dysplasia' because of the marked differences in size and shape of the vertebral bodies (anisospondyly), which he attributed to errors in segmentation. Fasanelli et al. (1985) proposed that there are different forms of dyssegmental dwarfism, a lethal Silverman-Handmaker type (224410) and a less severe Rolland-Desbuquois type. The Rolland-Desbuquois form is lethal in about 40% of patients. Although many patients survive beyond the newborn period, all exhibit neonatal distress (summary by Hennekam et al., 2010).
Platyspondylic dysplasia, Torrance type
MedGen UID:
331974
Concept ID:
C1835437
Disease or Syndrome
The Torrance type of platyspondylic lethal skeletal dysplasia (PLSDT) is an autosomal dominant disorder characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondroosseous junction. Though generally lethal in the perinatal period, longer survival has been reported (summary by Zankl et al., 2005).
Camptomelic dysplasia
MedGen UID:
354620
Concept ID:
C1861922
Disease or Syndrome
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.

Professional guidelines

PubMed

Boulet S, Althuser M, Nugues F, Schaal JP, Jouk PS
Prenat Diagn 2009 Jul;29(7):697-702. doi: 10.1002/pd.2280. PMID: 19399756

Recent clinical studies

Etiology

Coi A, Santoro M, Garne E, Pierini A, Addor MC, Alessandri JL, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Klungsøyr K, Kurinczuk JJ, Lanzoni M, Lelong N, Luyt K, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wisniewska K, Zymak-Zakutnia N, Barišić I
Am J Med Genet A 2019 Sep;179(9):1791-1798. Epub 2019 Jul 11 doi: 10.1002/ajmg.a.61289. PMID: 31294928
Kuroda Y, Murakami H, Enomoto Y, Tsurusaki Y, Takahashi K, Mitsuzuka K, Ishimoto H, Nishimura G, Kurosawa K
Clin Genet 2019 Jun;95(6):713-717. Epub 2019 Apr 11 doi: 10.1111/cge.13530. PMID: 30847897
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
Eleftheriades M, Iavazzo C, Manolakos E, Hassiakos D, Botsis D, Petersen M, Konstantinidou A
J Obstet Gynaecol 2013 Jan;33(1):14-6. doi: 10.3109/01443615.2012.698334. PMID: 23259870
Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF
Can Assoc Radiol J 1999 Jun;50(3):185-97. PMID: 10405653

Diagnosis

Coi A, Santoro M, Garne E, Pierini A, Addor MC, Alessandri JL, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Klungsøyr K, Kurinczuk JJ, Lanzoni M, Lelong N, Luyt K, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wisniewska K, Zymak-Zakutnia N, Barišić I
Am J Med Genet A 2019 Sep;179(9):1791-1798. Epub 2019 Jul 11 doi: 10.1002/ajmg.a.61289. PMID: 31294928
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
Eleftheriades M, Iavazzo C, Manolakos E, Hassiakos D, Botsis D, Petersen M, Konstantinidou A
J Obstet Gynaecol 2013 Jan;33(1):14-6. doi: 10.3109/01443615.2012.698334. PMID: 23259870
Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF
Can Assoc Radiol J 1999 Jun;50(3):185-97. PMID: 10405653
Avni EF, Rypens F, Zappa M, Donner C, Vanregemorter N, Cohen E
Pediatr Radiol 1996;26(3):171-8. doi: 10.1007/BF01405292. PMID: 8599003

Prognosis

Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxová A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafé L
Am J Hum Genet 2009 Jun;84(6):760-70. Epub 2009 May 28 doi: 10.1016/j.ajhg.2009.05.002. PMID: 19481194Free PMC Article
Naki MM, Gür D, Zemheri E, Tekcan C, Kanadikirik F, Has R
Arch Gynecol Obstet 2005 Jul;272(2):173-5. Epub 2004 Dec 17 doi: 10.1007/s00404-004-0696-9. PMID: 15605271
Soell J
Neonatal Netw 1999 Mar;18(2):41-8. doi: 10.1891/0730-0832.18.2.41. PMID: 10362999
Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH
Am J Hum Genet 1998 Feb;62(2):311-9. doi: 10.1086/301713. PMID: 9463320Free PMC Article
MacDermot KD, Winter RM, Wigglesworth JS, Strobel S
J Med Genet 1991 Jan;28(1):10-7. doi: 10.1136/jmg.28.1.10. PMID: 1999827Free PMC Article

Clinical prediction guides

Coi A, Santoro M, Garne E, Pierini A, Addor MC, Alessandri JL, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Klungsøyr K, Kurinczuk JJ, Lanzoni M, Lelong N, Luyt K, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wisniewska K, Zymak-Zakutnia N, Barišić I
Am J Med Genet A 2019 Sep;179(9):1791-1798. Epub 2019 Jul 11 doi: 10.1002/ajmg.a.61289. PMID: 31294928
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD
Am J Med Genet A 2016 Aug;170(8):2039-43. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37776. PMID: 27257098
Martínez-Frías ML, Egüés X, Puras A, Hualde J, de Frutos CA, Bermejo E, Nieto MA, Martínez S
Am J Med Genet A 2011 Jan;155A(1):197-202. doi: 10.1002/ajmg.a.33765. PMID: 21204232
Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxová A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafé L
Am J Hum Genet 2009 Jun;84(6):760-70. Epub 2009 May 28 doi: 10.1016/j.ajhg.2009.05.002. PMID: 19481194Free PMC Article
Shohat M, Rimoin DL, Gruber HE, Lachman RS
Pediatr Radiol 1991;21(6):421-7. doi: 10.1007/BF02026677. PMID: 1749675

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