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Clinodactyly of the 2nd finger

MedGen UID:
Concept ID:
Synonym: Second finger clinodactyly
HPO: HP:0040022

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVClinodactyly of the 2nd finger

Conditions with this feature

Saldino-Mainzer syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Skeletal dysplasia, mild, with joint laxity and advanced bone age
MedGen UID:
Concept ID:
Disease or Syndrome
CSGALNACT1 deficiency is characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly. Advanced carpotarsal bone age and monkey-wrench appearance of the femur observed in infancy may disappear with age (Mizumoto et al., 2020).
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
MedGen UID:
Concept ID:
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (NEDDFSB) is a multisystemic developmental disorder characterized by feeding difficulties, poor overall growth, and global developmental delay with moderate to severely impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facial features and skeletal defects, mainly affecting the distal extremities. More variable additional findings include hypotonia, seizures, and ocular defects. Brain imaging tends to show structural defects of the corpus callosum and cerebellar hypoplasia (Duijkers et al., 2019).

Recent clinical studies


Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM
Hum Mol Genet 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. PMID: 35861666Free PMC Article
De Francesco S, Galluzzi P, Del Longo A, Piozzi E, Renieri A, Menicacci C, Mari F, Munier F, Hadjistilianou T, Mastrangelo D
Eur J Ophthalmol 2012 Sep-Oct;22(5):857-60. doi: 10.5301/ejo.5000151. PMID: 22505049
Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V
Am J Med Genet 2001 Jan 1;98(1):92-100. PMID: 11426460
Stoll C, Alembik Y, Repetto M
Genet Couns 1998;9(2):147-52. PMID: 9664212
Ounap K, Justus I, Lipping-Sitska M
Clin Dysmorphol 1998 Jan;7(1):45-50. PMID: 9546830

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