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Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Hydrocephalus, sprengel anomaly, and costovertebral dysplasia
Modes of inheritance:
Unknown inheritance
MedGen UID:
Concept ID:
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Monarch Initiative: MONDO:0010972
OMIM®: 600991
Orphanet: ORPHA2180


A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. [from ORDO]

Clinical features

From HPO
MedGen UID:
Concept ID:
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Sandal gap
MedGen UID:
Concept ID:
A widely spaced gap between the first toe (the great toe) and the second toe.
Low-set ears
MedGen UID:
Concept ID:
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
MedGen UID:
Concept ID:
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
Arachnoid cyst
MedGen UID:
Concept ID:
Disease or Syndrome
An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
Global developmental delay
MedGen UID:
Concept ID:
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Abnormal cerebral white matter morphology
MedGen UID:
Concept ID:
Pathologic Function
An abnormality of the cerebral white matter.
Delayed gross motor development
MedGen UID:
Concept ID:
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Intellectual disability
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Congenital elevation of scapula
MedGen UID:
Concept ID:
Congenital Abnormality
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
MedGen UID:
Concept ID:
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Malar flattening
MedGen UID:
Concept ID:
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Enamel hypoplasia
MedGen UID:
Concept ID:
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
High forehead
MedGen UID:
Concept ID:
An abnormally increased height of the forehead.
Bulbous nose
MedGen UID:
Concept ID:
Increased volume and globular shape of the anteroinferior aspect of the nose.
High palate
MedGen UID:
Concept ID:
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Mandibular prognathia
MedGen UID:
Concept ID:
Abnormal prominence of the chin related to increased length of the mandible.
MedGen UID:
Concept ID:
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Depressed nasal bridge
MedGen UID:
Concept ID:
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Anteverted nares
MedGen UID:
Concept ID:
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Wide nasal bridge
MedGen UID:
Concept ID:
Increased breadth of the nasal bridge (and with it, the nasal root).
MedGen UID:
Concept ID:
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

Professional guidelines


Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
McCrindle BW, Rowley AH, Newburger JW, Burns JC, Bolger AF, Gewitz M, Baker AL, Jackson MA, Takahashi M, Shah PB, Kobayashi T, Wu MH, Saji TT, Pahl E; American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee of the Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; Council on Cardiovascular Surgery and Anesthesia; and Council on Epidemiology and Prevention
Circulation 2017 Apr 25;135(17):e927-e999. Epub 2017 Mar 29 doi: 10.1161/CIR.0000000000000484. PMID: 28356445
Legro RS, Arslanian SA, Ehrmann DA, Hoeger KM, Murad MH, Pasquali R, Welt CK; Endocrine Society
J Clin Endocrinol Metab 2013 Dec;98(12):4565-92. Epub 2013 Oct 22 doi: 10.1210/jc.2013-2350. PMID: 24151290Free PMC Article

Recent clinical studies


Valdebran M, Wine Lee L
Curr Opin Pediatr 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. PMID: 32692048
Jacquinet A, Millar D, Lehman A
Am J Med Genet A 2016 Aug;170(8):2141-72. Epub 2016 Jun 8 doi: 10.1002/ajmg.a.37775. PMID: 27273803
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article
Dalal AB, Phadke SR, Pradhan M, Sharda S
Indian J Pediatr 2006 Jul;73(7):609-15. doi: 10.1007/BF02759927. PMID: 16877856


Bhattacharjee K, Rehman O, Venkatraman V, Kikkawa D, Bhattacharjee H, Gogoi R, Grewal AM, Bhattacharjee P
Indian J Ophthalmol 2022 Jul;70(7):2346-2354. doi: 10.4103/ijo.IJO_3207_21. PMID: 35791116Free PMC Article
Geenen KR, Patel S, Thiele EA
Dev Med Child Neurol 2021 Mar;63(3):259-262. Epub 2020 Oct 31 doi: 10.1111/dmcn.14723. PMID: 33135153
McCuaig CC
Curr Opin Pediatr 2017 Aug;29(4):448-454. doi: 10.1097/MOP.0000000000000518. PMID: 28654575
Lubinsky M, Kantaputra PN
Am J Med Genet A 2016 Oct;170(10):2611-6. Epub 2016 Jun 2 doi: 10.1002/ajmg.a.37763. PMID: 27250821
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article


Geenen KR, Patel S, Thiele EA
Dev Med Child Neurol 2021 Mar;63(3):259-262. Epub 2020 Oct 31 doi: 10.1111/dmcn.14723. PMID: 33135153
Soriano A, Soriano M, Espinosa G, Manna R, Emmi G, Cantarini L, Hernández-Rodríguez J
Front Immunol 2020;11:865. Epub 2020 Jun 3 doi: 10.3389/fimmu.2020.00865. PMID: 32655539Free PMC Article
Martinez-Lopez A, Salvador-Rodriguez L, Montero-Vilchez T, Molina-Leyva A, Tercedor-Sanchez J, Arias-Santiago S
Curr Opin Pediatr 2019 Dec;31(6):747-753. doi: 10.1097/MOP.0000000000000812. PMID: 31693582
Sawh-Martinez R, Steinbacher DM
Clin Plast Surg 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009. PMID: 30851747
Rosenfield M
Ophthalmic Physiol Opt 2011 Sep;31(5):502-15. Epub 2011 Apr 12 doi: 10.1111/j.1475-1313.2011.00834.x. PMID: 21480937


Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Stevens CA, Sargent LA
Am J Med Genet 2002 Jan 1;107(1):30-7. doi: 10.1002/ajmg.10123. PMID: 11807864
D'Alton ME, Simpson LL
Semin Perinatol 1995 Oct;19(5):375-86. doi: 10.1016/s0146-0005(05)80015-1. PMID: 8821025
Zanini SA, Paglioli Neto E, Viterbo F, da Costa AR, Tershakowec M
J Craniofac Surg 1992 Sep;3(2):85-9. doi: 10.1097/00001665-199209000-00007. PMID: 1290788

Clinical prediction guides

Bigley V, Cytlak U, Collin M
Semin Cell Dev Biol 2019 Feb;86:50-61. Epub 2018 Feb 23 doi: 10.1016/j.semcdb.2018.02.020. PMID: 29452225
Kattah JC
Stroke Vasc Neurol 2018 Dec;3(4):190-196. Epub 2018 Jun 23 doi: 10.1136/svn-2018-000160. PMID: 30637123Free PMC Article
Takahashi Y, Fukusato T
World J Gastroenterol 2014 Nov 14;20(42):15539-48. doi: 10.3748/wjg.v20.i42.15539. PMID: 25400438Free PMC Article
Currarino G, Sheffield E, Twickler D
Pediatr Radiol 1998 Jan;28(1):30-7. doi: 10.1007/s002470050287. PMID: 9426270
Stevens CA, Wilroy RS Jr
J Med Genet 1988 Aug;25(8):536-42. doi: 10.1136/jmg.25.8.536. PMID: 3050099Free PMC Article

Recent systematic reviews

Malaza N, Masete M, Adam S, Dias S, Nyawo T, Pheiffer C
Int J Environ Res Public Health 2022 Aug 31;19(17) doi: 10.3390/ijerph191710846. PMID: 36078559Free PMC Article
Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029
Payne LE, Gagnon DJ, Riker RR, Seder DB, Glisic EK, Morris JG, Fraser GL
Crit Care 2017 Nov 14;21(1):276. doi: 10.1186/s13054-017-1856-1. PMID: 29137682Free PMC Article
Hayden A, Park S, Giustini D, Lee AY, Chen LY
Blood Rev 2016 Nov;30(6):411-420. Epub 2016 May 20 doi: 10.1016/j.blre.2016.05.001. PMID: 27238576
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E
J Natl Cancer Inst 2013 Nov 6;105(21):1607-16. Epub 2013 Oct 17 doi: 10.1093/jnci/djt277. PMID: 24136893

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