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Tall stature-scoliosis-macrodactyly of the great toes syndrome(ECDM)

MedGen UID:: 863127
•Concept ID:: C4014690
•: Disease or Syndrome

Synonym:	Epiphyseal chondrodysplasia, miura type
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	NPR2 (9p13.3)

Monarch Initiative:	MONDO:0014401
OMIM®:	615923
Orphanet:	ORPHA329191

Definition

Miura-type epiphyseal chondrodysplasia (ECDM) is an overgrowth syndrome characterized by tall stature, arachnodactyly of the hands, macrodactyly of the great toes, scoliosis, coxa valga, and slipped capital femoral epiphysis (Miura et al., 2014). Multiple extra epiphyses are present in the hands (Boudin et al., 2018). Mutation in the NPR3 gene (108962) results in Boudin-Mortier syndrome (BOMOS; 619543), a similar phenotype of tall stature, arachnodactyly, elongated great toes, and multiple extra epiphyses. [from OMIM]

Clinical features

From HPO

Increased urinary type 1 collagen N-terminal telopeptide level

MedGen UID:: 1696523
•Concept ID:: C5139193
•: Finding

An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.

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Arachnodactyly

MedGen UID:: 2047
•Concept ID:: C0003706
•: Congenital Abnormality

Abnormally long and slender fingers ("spider fingers").

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Long hallux

MedGen UID:: 400514
•Concept ID:: C1864375
•: Finding

Increased length of the big toe.

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Broad hallux

MedGen UID:: 401165
•Concept ID:: C1867131
•: Finding

Visible increase in width of the hallux without an increase in the dorso-ventral dimension.

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Fifth finger distal phalanx clinodactyly

MedGen UID:: 870685
•Concept ID:: C4025139
•: Congenital Abnormality

Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).

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Tall stature

MedGen UID:: 69137
•Concept ID:: C0241240
•: Finding

A height above that which is expected according to age and gender norms.

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Osteopenia

MedGen UID:: 18222
•Concept ID:: C0029453
•: Disease or Syndrome

Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.

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Scoliosis

MedGen UID:: 11348
•Concept ID:: C0036439
•: Disease or Syndrome

The presence of an abnormal lateral curvature of the spine.

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Epiphyseal dysplasia

MedGen UID:: 95932
•Concept ID:: C0392476
•: Congenital Abnormality

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Elevated alkaline phosphatase of bone origin

MedGen UID:: 318930
•Concept ID:: C1833667
•: Finding

An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.

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Abnormal circulating beta-C-terminal telopeptide concentration

MedGen UID:: 1623048
•Concept ID:: C4531130
•: Finding

A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.

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Abnormality of limbs
Abnormality of metabolism/homeostasis
- Abnormal circulating beta-C-terminal telopeptide concentration
- Elevated alkaline phosphatase of bone origin
Abnormality of the genitourinary system
- Increased urinary type 1 collagen N-terminal telopeptide level
Abnormality of the musculoskeletal system
Growth abnormality
- Tall stature

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVTall stature-scoliosis-macrodactyly of the great toes syndrome

Dysostosis with predominant vertebral and costal involvement
- Tall stature-scoliosis-macrodactyly of the great toes syndrome

Recent clinical studies

Diagnosis

Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort.

Sandal S, Mahay SB, Dimri Gupta N, Saxena R, Lall M, Dua Puri R
Am J Med Genet A 2022 Jun;188(6):1904-1908. Epub 2022 Feb 21 doi: 10.1002/ajmg.a.62692. PMID: 35191187

Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.

Miura K, Kim OH, Lee HR, Namba N, Michigami T, Yoo WJ, Choi IH, Ozono K, Cho TJ
Am J Med Genet A 2014 Jan;164A(1):156-63. Epub 2013 Nov 20 doi: 10.1002/ajmg.a.36218. PMID: 24259409

Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?

Mégarbané A, Hanna N, Chouery E, Jalkh N, Mehawej C, Boileau C
Am J Med Genet A 2012 May;158A(5):1185-9. Epub 2012 Apr 9 doi: 10.1002/ajmg.a.35279. PMID: 22489068

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Tall stature-scoliosis-macrodactyly of the great toes syndrome(ECDM)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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