Grant syndrome

MedGen UID:: 333925
•Concept ID:: C1841835
•: Disease or Syndrome

Synonym:	Persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia
SNOMED CT:	Grant syndrome (723827003)
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Unknown inheritance (Orphanet)

Monarch Initiative:	MONDO:0007683
OMIM®:	138930
Orphanet:	ORPHA2097

Definition

A rare osteogenesis imperfecta-like disorder, described in two patients to date, with clinical characteristics of persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. [from SNOMEDCT_US]

Clinical features

From HPO

Tibial bowing

MedGen UID:: 332360
•Concept ID:: C1837081
•: Finding

A bending or abnormal curvature of the tibia.

See: Feature record | Search on this feature

Micrognathia

MedGen UID:: 44428
•Concept ID:: C0025990
•: Congenital Abnormality

Developmental hypoplasia of the mandible.

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Down-sloping shoulders

MedGen UID:: 346461
•Concept ID:: C1856872
•: Finding

Low set, steeply sloping shoulders.

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Wormian bones

MedGen UID:: 766814
•Concept ID:: C3553900
•: Congenital Abnormality

The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.

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Blue sclerae

MedGen UID:: 154236
•Concept ID:: C0542514
•: Finding

An abnormal bluish coloration of the sclera.

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Abnormality of limbs
- Tibial bowing
Abnormality of the eye
- Blue sclerae
Abnormality of the musculoskeletal system

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGrant syndrome

Primary bone dysplasia with decreased bone density
- Grant syndrome

Follow this link to review classifications for Grant syndrome in Orphanet.

Professional guidelines

PubMed

International Consensus Criteria for Pediatric Sepsis and Septic Shock.

Schlapbach LJ, Watson RS, Sorce LR, Argent AC, Menon K, Hall MW, Akech S, Albers DJ, Alpern ER, Balamuth F, Bembea M, Biban P, Carrol ED, Chiotos K, Chisti MJ, DeWitt PE, Evans I, Flauzino de Oliveira C, Horvat CM, Inwald D, Ishimine P, Jaramillo-Bustamante JC, Levin M, Lodha R, Martin B, Nadel S, Nakagawa S, Peters MJ, Randolph AG, Ranjit S, Rebull MN, Russell S, Scott HF, de Souza DC, Tissieres P, Weiss SL, Wiens MO, Wynn JL, Kissoon N, Zimmerman JJ, Sanchez-Pinto LN, Bennett TD; Society of Critical Care Medicine Pediatric Sepsis Definition Task Force
JAMA 2024 Feb 27;331(8):665-674. doi: 10.1001/jama.2024.0179. PMID: 38245889 Free PMC Article

Recommendations From the 2023 International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome.

Teede HJ, Tay CT, Laven JJE, Dokras A, Moran LJ, Piltonen TT, Costello MF, Boivin J, Redman LM, Boyle JA, Norman RJ, Mousa A, Joham AE
J Clin Endocrinol Metab 2023 Sep 18;108(10):2447-2469. doi: 10.1210/clinem/dgad463. PMID: 37580314 Free PMC Article

Consensus on diagnosis and management of Cushing's disease: a guideline update.

Fleseriu M, Auchus R, Bancos I, Ben-Shlomo A, Bertherat J, Biermasz NR, Boguszewski CL, Bronstein MD, Buchfelder M, Carmichael JD, Casanueva FF, Castinetti F, Chanson P, Findling J, Gadelha M, Geer EB, Giustina A, Grossman A, Gurnell M, Ho K, Ioachimescu AG, Kaiser UB, Karavitaki N, Katznelson L, Kelly DF, Lacroix A, McCormack A, Melmed S, Molitch M, Mortini P, Newell-Price J, Nieman L, Pereira AM, Petersenn S, Pivonello R, Raff H, Reincke M, Salvatori R, Scaroni C, Shimon I, Stratakis CA, Swearingen B, Tabarin A, Takahashi Y, Theodoropoulou M, Tsagarakis S, Valassi E, Varlamov EV, Vila G, Wass J, Webb SM, Zatelli MC, Biller BMK
Lancet Diabetes Endocrinol 2021 Dec;9(12):847-875. Epub 2021 Oct 20 doi: 10.1016/S2213-8587(21)00235-7. PMID: 34687601 Free PMC Article

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