Brachydactyly, and Clinodactyly

Diseases related with Brachydactyly and Clinodactyly

In the following list you will find some of the most common rare diseases related to Brachydactyly and Clinodactyly that can help you solving undiagnosed cases.


Top matches:

Medium match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low match MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4


Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Pain
  • Brachydactyly
  • Clinodactyly
  • Pes planus


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4

Low match BRACHYDACTYLY, TYPE A1, D; BDA1D


Related symptoms:

  • Delayed speech and language development
  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE A1, D; BDA1D

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Other less relevant matches:

Low match ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9


Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Low-set ears
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9

Low match AUTOSOMAL DOMINANT BRACHYOLMIA


Autosomal dominant brachyolmia is a relatively severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.

AUTOSOMAL DOMINANT BRACHYOLMIA Is also known as brachyrachia|brachyolmia type 3|brachyolmia, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Short neck
  • Kyphosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT BRACHYOLMIA

Low match FEINGOLD SYNDROME TYPE 2


Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.

FEINGOLD SYNDROME TYPE 2 Is also known as brachydactyly with short stature and microcephaly|fs2|fglds2|brunner-winter syndrome type 2|brachydactyly-short stature-microcephaly syndrome|microcephaly-digital anomalies-normal intelligence syndrome type 2|microcephaly-intellectual disability-tracheoes

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FEINGOLD SYNDROME TYPE 2

Low match SYNDACTYLY TYPE 5


Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

SYNDACTYLY TYPE 5 Is also known as sd5|postaxial syndactyly with metacarpal synostosis|syndactyly with metacarpal and metatarsal fusion

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Clinodactyly of the 5th finger
  • Camptodactyly of finger
  • Abnormality of the foot


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNDACTYLY TYPE 5

Low match HEART-HAND SYNDROME, SLOVENIAN TYPE


Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.

HEART-HAND SYNDROME, SLOVENIAN TYPE Is also known as atriodigital dysplasia, slovenian type|cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Brachydactyly
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEART-HAND SYNDROME, SLOVENIAN TYPE

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Low match TARSAL-CARPAL COALITION SYNDROME


Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Brachydactyly
  • Clinodactyly
  • Abnormality of the hand


SOURCES: ORPHANET OMIM MENDELIAN

More info about TARSAL-CARPAL COALITION SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Clinodactyly

Symptoms // Phenotype % cases
Syndactyly Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Carpal synostosis Uncommon - Between 30% and 50% cases
Abnormality of the foot Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Clinodactyly. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Intellectual disability Muscle weakness Clinodactyly of the 5th finger Synostosis of carpals/tarsals Tarsal synostosis Pes planus Radial deviation of finger Aplasia of the middle phalanx of the hand Distal symphalangism of hands 3-4 finger syndactyly Ulnar deviation of finger Cutaneous syndactyly Supraventricular arrhythmia Upper limb muscle weakness Limb muscle weakness Dilated cardiomyopathy Arrhythmia Myopathy Short middle phalanx of finger Cardiomyopathy Flexion contracture Deviation of toes Metacarpal synostosis Enlarged proximal interphalangeal joints Cutaneous finger syndactyly Short distal phalanx of finger Fused fourth and fifth metacarpals Metatarsal synostosis Interphalangeal joint contracture of finger 3-4 toe syndactyly Joint contracture of the hand Absent distal interphalangeal creases 2-3 toe syndactyly 4-5 toe syndactyly Camptodactyly of finger Fever Abnormal atrioventricular conduction Episodic fever Proximal symphalangism of hands Proximal symphalangism Abnormality of the ankles Humeroradial synostosis Short 1st metacarpal Ankylosis Synostosis of carpal bones Short finger Cubitus valgus Abnormality of the hand Lymphadenitis Periorbital edema Recurrent viral infections Combined immunodeficiency Abnormal electrophysiology of sinoatrial node origin Vasculitis Subcutaneous nodule Inflammatory abnormality of the skin Bifid uvula Everted lower lip vermilion Autoimmunity Scarring Thrombocytopenia Immunodeficiency Edema Short thumb Global developmental delay Seizures Abnormal vertebral morphology Spinal cord compression Intellectual disability, mild Pain Short distal phalanx of the thumb Short 2nd finger Short proximal phalanx of finger Short middle phalanx of the 5th finger Arachnodactyly Delayed speech and language development Progressive conductive hearing impairment Otosclerosis Broad foot Overlapping toe Finger clinodactyly Conductive hearing impairment External genital hypoplasia Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Anosmia Renal cyst Retinal dystrophy Retinal degeneration Nyctalopia Reduced visual acuity Polydactyly Hypogonadism Rod-cone dystrophy Obesity Abnormality of the dentition Blindness Cognitive impairment Poor motor coordination Short proximal phalanx of thumb Abnormality of the skeletal system Kyphoscoliosis Microcephaly Childhood-onset short-trunk short stature Proximal femoral metaphyseal irregularity Increased vertebral height Barrel-shaped chest Cryptorchidism Short femoral neck Short thorax Spondyloepiphyseal dysplasia Abnormality of the metaphysis Limb undergrowth Hypermetropia Platyspondyly Severe short stature Short distal phalanx of the 2nd finger Kyphosis Short neck Scoliosis Thromboembolic stroke Paroxysmal atrial fibrillation Ventricular extrasystoles Ventricular tachycardia Atrial fibrillation Syncope Tachycardia Stroke Low-set ears Cleft palate Progressive fusion 2nd-5th pip joints



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