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Brachydactyly type B2(BDB2)

MedGen UID:: 409880
•Concept ID:: C1969652
•: Disease or Syndrome

Synonym:	BDB2
SNOMED CT:	Brachydactyly type B2 (770406002)
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:0012658
OMIM®:	611377
Orphanet:	ORPHA140908

Definition

Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly (summary by Lehmann et al., 2007). [from OMIM]

Clinical features

From HPO

Cutaneous syndactyly of toes

MedGen UID:: 320423
•Concept ID:: C1834737
•: Congenital Abnormality

A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.

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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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Short 1st metacarpal

MedGen UID:: 376561
•Concept ID:: C1849311
•: Finding

A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.

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Aplasia/Hypoplasia of the distal phalanges of the hand

MedGen UID:: 396110
•Concept ID:: C1861336
•: Finding

Absence or underdevelopment of the distal phalanges.

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Aplasia/Hypoplasia of the middle phalanges of the hand

MedGen UID:: 354674
•Concept ID:: C1862152
•: Finding

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Absent phalangeal crease

MedGen UID:: 349522
•Concept ID:: C1862479
•: Finding

Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).

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Proximal placement of thumb

MedGen UID:: 356033
•Concept ID:: C1865572
•: Finding

Proximal mislocalization of the thumb.

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Cutaneous finger syndactyly

MedGen UID:: 866898
•Concept ID:: C4021254
•: Congenital Abnormality

A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.

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Aplasia/Hypoplasia of the distal phalanges of the toes

MedGen UID:: 892342
•Concept ID:: C4021326
•: Finding

Absence or underdevelopment of the distal phalanges of the toes.

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Aplasia/Hypoplasia of the middle phalanges of the toes

MedGen UID:: 869548
•Concept ID:: C4023976
•: Finding

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Sensorineural hearing loss disorder

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

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Tarsal synostosis

MedGen UID:: 539393
•Concept ID:: C0265654
•: Congenital Abnormality

Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).

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Carpal synostosis

MedGen UID:: 98468
•Concept ID:: C0431863
•: Congenital Abnormality

Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).

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Distal symphalangism of hands

MedGen UID:: 350607
•Concept ID:: C1862158
•: Finding

The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.

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Proximal symphalangism of hands

MedGen UID:: 867247
•Concept ID:: C4021607
•: Anatomical Abnormality

The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.

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Aplasia/Hypoplasia of the nails

MedGen UID:: 347794
•Concept ID:: C1859077
•: Finding

Aplasia or developmental hypoplasia of the nail.

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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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Abnormality of limbs
Abnormality of the eye
- Hypermetropia
Abnormality of the integument
- Aplasia/Hypoplasia of the nails
Abnormality of the musculoskeletal system
Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBrachydactyly syndrome type B
- CROGVBrachydactyly type B1
- CROGVBrachydactyly type B2

Fetal anomaly
- Congenital Systemic Disorder
  - Congenital anomaly of musculoskeletal system
    - Congenital deformities of limbs
      - Brachydactyly
        Brachydactyly syndrome type B
        Brachydactyly type B2

Follow this link to review classifications for Brachydactyly type B2 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

A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.

Shao J, Liu Y, Zhao S, Sun W, Zhan J, Cao L
BMC Pediatr 2022 Sep 5;22(1):528. doi: 10.1186/s12887-022-03564-z. PMID: 36064339 Free PMC Article

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

See all (3)

Prognosis

A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.

Shao J, Liu Y, Zhao S, Sun W, Zhan J, Cao L
BMC Pediatr 2022 Sep 5;22(1):528. doi: 10.1186/s12887-022-03564-z. PMID: 36064339 Free PMC Article

Identification of a novel NOG mutation in a Chinese family with proximal symphalangism.

Liu F, Huang Y, Liu L, Liang B, Qu Z, Huang G, Li C, Tian R, Jiang Z, Liu F, Yu X, Huang Y, Liu J, Tang Z
Clin Chim Acta 2014 Feb 15;429:129-33. Epub 2013 Dec 8 doi: 10.1016/j.cca.2013.12.004. PMID: 24326127

See all (2)