Brachydactyly, and Clinodactyly

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 ).

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

SOURCES: OMIM MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

Low match BRACHYDACTYLY, TYPE A1, D; BDA1D

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

SOURCES: OMIM MENDELIAN

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}.

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: ORPHANET MESH OMIM MENDELIAN

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

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

SOURCES: OMIM MESH ORPHANET MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

Low match TARSAL-CARPAL COALITION SYNDROME

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

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

SOURCES: ORPHANET OMIM MENDELIAN