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Brachydactyly type B1(BDB1)

MedGen UID:
349432
Concept ID:
C1862112
Congenital Abnormality; Finding
Synonym: BDB1
 
Gene (location): ROR2 (9q22.31)
 
Monarch Initiative: MONDO:0007220
OMIM®: 113000
Orphanet: ORPHA572385

Definition

A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands. [from ORDO]

Clinical features

From HPO
Micropenis
MedGen UID:
1633603
Concept ID:
C4551492
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
Brachydactyly syndrome type B
MedGen UID:
722046
Concept ID:
C1300267
Disease or Syndrome
Type B1 brachydactyly (BDB1) is the most severe type of human brachydactyly, and shows high penetrance and variable expressivity. Hypoplastic or absent distal phalanges and nails of digits 2 through 5 in the hands and feet are cardinal phenotypic features of BDB1. The middle phalanges of digits 2 through 5 are usually short and may form a bony fusion with the corresponding hypoplastic distal phalanges. The deformed thumbs are often flat, broad, or bifid. A rarer feature of BDB1 is cutaneous syndactyly affecting both fingers and toes (summary by Lv et al., 2009).
Short middle phalanx of finger
MedGen UID:
337690
Concept ID:
C1846950
Finding
Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.
Aplasia/Hypoplasia of the distal phalanges of the hand
MedGen UID:
396110
Concept ID:
C1861336
Finding
Absence or underdevelopment of the distal phalanges.
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.
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.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Delayed cranial suture closure
MedGen UID:
75805
Concept ID:
C0277828
Finding
Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Thoracolumbar scoliosis
MedGen UID:
196671
Concept ID:
C0749379
Anatomical Abnormality
Short long bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Hypoplastic sacrum
MedGen UID:
370356
Concept ID:
C1970816
Finding
Vertebral fusion
MedGen UID:
480139
Concept ID:
C3278509
Anatomical Abnormality
A developmental defect leading to the union of two adjacent vertebrae.
Delayed eruption of permanent teeth
MedGen UID:
340353
Concept ID:
C1849540
Finding
Delayed tooth eruption affecting the secondary dentition.
Anonychia
MedGen UID:
120563
Concept ID:
C0265998
Congenital Abnormality
Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).
Hypoplastic fingernail
MedGen UID:
347304
Concept ID:
C1856786
Finding
Underdevelopment of a fingernail.

Term Hierarchy

Recent clinical studies

Diagnosis

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: 36064339Free PMC Article
Malik S, Nalbant G, Noreen M, Afzal M, Tolun A
Am J Med Genet A 2022 Jan;188(1):343-349. Epub 2021 Sep 27 doi: 10.1002/ajmg.a.62514. PMID: 34569147

Therapy

Dong S, Wang Y, Tao S, Zheng F
Ann Clin Lab Sci 2015 Winter;45(1):94-9. PMID: 25696018

Prognosis

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: 36064339Free PMC Article
Lv D, Luo Y, Yang W, Cao L, Wen Y, Zhao X, Sun M, Lo WH, Zhang X
J Hum Genet 2009 Jul;54(7):422-5. Epub 2009 May 22 doi: 10.1038/jhg.2009.48. PMID: 19461659

Clinical prediction guides

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: 36064339Free PMC Article
Lv D, Luo Y, Yang W, Cao L, Wen Y, Zhao X, Sun M, Lo WH, Zhang X
J Hum Genet 2009 Jul;54(7):422-5. Epub 2009 May 22 doi: 10.1038/jhg.2009.48. PMID: 19461659

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