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Stapes ankylosis with broad thumbs and toes

MedGen UID:: 357104
•Concept ID:: C1866656
•: Disease or Syndrome

Synonyms:	ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY; STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM; Stapes ankylosis with broad thumb and toes; TEUNISSEN-CREMERS SYNDROME
SNOMED CT:	Stapes ankylosis with broad thumb and toe syndrome (719305006); Teunissen Cremers syndrome (719305006)
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.	NOG (17q22)

Monarch Initiative:	MONDO:0008484
OMIM®:	184460
Orphanet:	ORPHA140917

Definition

This syndrome has characteristics of congenital conductive deafness due to stapes ankylosis, broad thumbs and first toes and hyperopia. So far, it has been described in multiple members of six families. Other skeletal malformations were also reported including short distal phalanges and syndactyly, but symphalangism is usually absent. Transmission is autosomal dominant and the syndrome is caused by mutations in the NOG gene (17q22). [from SNOMEDCT_US]

Clinical features

From HPO

Toe syndactyly

MedGen UID:: 75581
•Concept ID:: C0265660
•: Congenital Abnormality

Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".

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Broad thumb

MedGen UID:: 140880
•Concept ID:: C0426891
•: Finding

Increased thumb width without increased dorso-ventral dimension.

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Proximal/middle symphalangism of 5th finger

MedGen UID:: 332151
•Concept ID:: C1836212
•: Finding

Fusion of the proximal and middle phalanges of the 5th finger.

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Short distal phalanx of finger

MedGen UID:: 326590
•Concept ID:: C1839829
•: Finding

Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.

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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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Conductive hearing impairment

MedGen UID:: 9163
•Concept ID:: C0018777
•: Disease or Syndrome

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.

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Stapes ankylosis

MedGen UID:: 350008
•Concept ID:: C1861326
•: Anatomical Abnormality

Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).

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Congenital stapes ankylosis

MedGen UID:: 357105
•Concept ID:: C1866657
•: Finding

A form of stapes ankylosis with congenital onset.

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Fused cervical vertebrae

MedGen UID:: 854386
•Concept ID:: C3887527
•: Congenital Abnormality

A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.

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Underdeveloped nasal alae

MedGen UID:: 322332
•Concept ID:: C1834055
•: Congenital Abnormality

Thinned, deficient, or excessively arched ala nasi.

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Long nose

MedGen UID:: 326583
•Concept ID:: C1839798
•: Finding

Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.

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Low hanging columella

MedGen UID:: 344656
•Concept ID:: C1856119
•: Finding

Columella extending inferior to the level of the nasal base, when viewed from the side.

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Limited neck range of motion

MedGen UID:: 395202
•Concept ID:: C1859212
•: Finding

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Hypermetropia

MedGen UID:: 43780
•Concept ID:: C0020490
•: Disease or Syndrome

An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.

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Show all Hide all

Abnormality of head or neck
Abnormality of limbs
Abnormality of the eye
- Hypermetropia
Abnormality of the musculoskeletal system
- Fused cervical vertebrae
Ear malformation

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVStapes ankylosis with broad thumbs and toes

Syndromic genetic hearing loss
- Stapes ankylosis with broad thumbs and toes

Follow this link to review classifications for Stapes ankylosis with broad thumbs and toes in Orphanet.

Professional guidelines

PubMed

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).

Potti TA, Petty EM, Lesperance MM
Hum Mutat 2011 Aug;32(8):877-86. Epub 2011 Jun 21 doi: 10.1002/humu.21515. PMID: 21538686

See all (1)

Recent clinical studies

Diagnosis

Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?

Nakashima T, Ganaha A, Tsumagari S, Nakamura T, Yamada Y, Nakamura E, Usami SI, Tono T
ORL J Otorhinolaryngol Relat Spec 2021;83(3):196-202. Epub 2021 Feb 15 doi: 10.1159/000512668. PMID: 33588412

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.

Ishino T, Takeno S, Hirakawa K
Eur J Med Genet 2015 Sep;58(9):427-32. Epub 2015 Jul 26 doi: 10.1016/j.ejmg.2015.06.005. PMID: 26211601

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).

Potti TA, Petty EM, Lesperance MM
Hum Mutat 2011 Aug;32(8):877-86. Epub 2011 Jun 21 doi: 10.1002/humu.21515. PMID: 21538686

Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis.

Emery SB, Meyer A, Miller L, Lesperance MM
Otol Neurotol 2009 Dec;30(8):1204-8. doi: 10.1097/MAO.0b013e31819e6398. PMID: 19471170

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.

Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM
Am J Hum Genet 2002 Sep;71(3):618-24. Epub 2002 Jun 27 doi: 10.1086/342067. PMID: 12089654 Free PMC Article

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