U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

MedGen UID:
377678
•Concept ID:
C1852454
•
Disease or Syndrome
Synonyms: Bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch; Cryptomicrotia brachydactyly syndrome; Tonoki ohura niikawa syndrome
SNOMED CT: Cryptomicrotia brachydactyly syndrome (725096002); Cryptomicrotia, brachydactyly, excess fingertip arch syndrome (725096002); Tonoki Ohura Niikawa syndrome (725096002)
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)
 
Monarch Initiative: MONDO:0007409
OMIM®: 123560
Orphanet: ORPHA1547

Definition

This syndrome describes a combination of malformations that include bilateral cryptomicrotia (recessed, hidden and small or absent ears), brachytelomesophalangy with short middle and distal phalanges of digits two through five, hypoplastic toenails and excess fingertip arch patterns. The syndrome has been reported in one family (mother and son). There have been no further descriptions in the literature since 1988. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCryptomicrotia-brachydactyly-excess fingertip arch syndrome
Follow this link to review classifications for Cryptomicrotia-brachydactyly-excess fingertip arch syndrome in Orphanet.

Recent clinical studies

Etiology

Acute digital ischemia: a neglected microsurgical emergency. Report of 17 patients and literature review.
Leclère FM, Mordon S, Schoofs M
Microsurgery 2010;30(3):207-13. doi: 10.1002/micr.20723. PMID: 19967763
Dermatoglyphic analyses in children with cerebral palsy.
Simsek S, Taskiran H, Karakaya N, Fistik T, Solak M, Cakmak EA
Neurobiology (Bp) 1998;6(3):373-80. PMID: 9778656
Vibrotactile perception threshold measurements for diagnosis of sensory neuropathy. Description of a reference population.
Lundström R, Strömberg T, Lundborg G
Int Arch Occup Environ Health 1992;64(3):201-7. doi: 10.1007/BF00380910. PMID: 1328063
Quantitative estimation of aesthesiometric thresholds for assessing impaired tactile sensation in workers exposed to vibration.
Bovenzi M, Zadini A
Int Arch Occup Environ Health 1989;61(7):431-5. doi: 10.1007/BF00386475. PMID: 2777386
Fingerprint patterns in Alzheimer's disease.
Weinreb HJ
Arch Neurol 1985 Jan;42(1):50-4. doi: 10.1001/archneur.1985.04060010056016. PMID: 3966885

Diagnosis

Acute digital ischemia: a neglected microsurgical emergency. Report of 17 patients and literature review.
Leclère FM, Mordon S, Schoofs M
Microsurgery 2010;30(3):207-13. doi: 10.1002/micr.20723. PMID: 19967763
Syndromes from segmental vibration and nerve entrapment: observations on case definitions for carpal tunnel syndrome.
Cherniack M, Brammer AJ, Lundstrom R, Morse TF, Neely G, Nilsson T, Peterson D, Toppila E, Warren N, Diva U, Croteau M, Dussetschleger J
Int Arch Occup Environ Health 2008 Apr;81(5):661-9. Epub 2007 Oct 2 doi: 10.1007/s00420-007-0268-y. PMID: 17909837
Vibrotactile perception threshold measurements for diagnosis of sensory neuropathy. Description of a reference population.
Lundström R, Strömberg T, Lundborg G
Int Arch Occup Environ Health 1992;64(3):201-7. doi: 10.1007/BF00380910. PMID: 1328063
Fingerprint patterns in Alzheimer's disease.
Weinreb HJ
Arch Neurol 1985 Jan;42(1):50-4. doi: 10.1001/archneur.1985.04060010056016. PMID: 3966885
The dermatoglyphic pattern of the trisomy 9p syndrome.
Rodewald A, Stengel-Rutkowski S, Zankl M
Clin Genet 1979 Dec;16(6):405-17. doi: 10.1111/j.1399-0004.1979.tb01349.x. PMID: 527248

Therapy

Syndromes from segmental vibration and nerve entrapment: observations on case definitions for carpal tunnel syndrome.
Cherniack M, Brammer AJ, Lundstrom R, Morse TF, Neely G, Nilsson T, Peterson D, Toppila E, Warren N, Diva U, Croteau M, Dussetschleger J
Int Arch Occup Environ Health 2008 Apr;81(5):661-9. Epub 2007 Oct 2 doi: 10.1007/s00420-007-0268-y. PMID: 17909837
Vibrotactile perception threshold measurements for diagnosis of sensory neuropathy. Description of a reference population.
Lundström R, Strömberg T, Lundborg G
Int Arch Occup Environ Health 1992;64(3):201-7. doi: 10.1007/BF00380910. PMID: 1328063
Quantitative estimation of aesthesiometric thresholds for assessing impaired tactile sensation in workers exposed to vibration.
Bovenzi M, Zadini A
Int Arch Occup Environ Health 1989;61(7):431-5. doi: 10.1007/BF00386475. PMID: 2777386
Angiokeratoma of Mibelli with necrosis of the fingertips.
Dave VK, Main RA
Arch Dermatol 1972 Nov;106(5):726-8. PMID: 4635805

Prognosis

Syndromes from segmental vibration and nerve entrapment: observations on case definitions for carpal tunnel syndrome.
Cherniack M, Brammer AJ, Lundstrom R, Morse TF, Neely G, Nilsson T, Peterson D, Toppila E, Warren N, Diva U, Croteau M, Dussetschleger J
Int Arch Occup Environ Health 2008 Apr;81(5):661-9. Epub 2007 Oct 2 doi: 10.1007/s00420-007-0268-y. PMID: 17909837
Quantitative estimation of aesthesiometric thresholds for assessing impaired tactile sensation in workers exposed to vibration.
Bovenzi M, Zadini A
Int Arch Occup Environ Health 1989;61(7):431-5. doi: 10.1007/BF00386475. PMID: 2777386

Clinical prediction guides

Syndromes from segmental vibration and nerve entrapment: observations on case definitions for carpal tunnel syndrome.
Cherniack M, Brammer AJ, Lundstrom R, Morse TF, Neely G, Nilsson T, Peterson D, Toppila E, Warren N, Diva U, Croteau M, Dussetschleger J
Int Arch Occup Environ Health 2008 Apr;81(5):661-9. Epub 2007 Oct 2 doi: 10.1007/s00420-007-0268-y. PMID: 17909837
A case report: first case of filtration leukocytapheresis for a patient of aortitis syndrome associated with ulcerative colitis.
Fukunaga K, Sawada K, Fukuda Y, Matoba Y, Onishi K, Fukui S, Yamamura M, Satomi M, Shimoyama T
Ther Apher 2002 Feb;6(1):93-8. doi: 10.1046/j.1526-0968.2002.00317.x. PMID: 11886584
Quantitative estimation of aesthesiometric thresholds for assessing impaired tactile sensation in workers exposed to vibration.
Bovenzi M, Zadini A
Int Arch Occup Environ Health 1989;61(7):431-5. doi: 10.1007/BF00386475. PMID: 2777386
Fingerprint patterns in Alzheimer's disease.
Weinreb HJ
Arch Neurol 1985 Jan;42(1):50-4. doi: 10.1001/archneur.1985.04060010056016. PMID: 3966885

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...