Brachydactyly, and Abnormality of the genital system

Diseases related with Brachydactyly and Abnormality of the genital system

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


Top matches:

Low 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 BARDET-BIEDL SYNDROME 5; BBS5


BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015). Patients described by Young et al. (1999) and Moore et al. (2005) with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Visual impairment
  • Brachydactyly
  • Syndactyly
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 5; BBS5

Low match BARDET-BIEDL SYNDROME 3; BBS3


BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise (Young et al., 1998; Ghadami et al., 2000).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Brachydactyly
  • Blindness
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 3; BBS3

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Other less relevant matches:

Low match DEAFNESS-INFERTILITY SYNDROME


Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Low match BRACHYDACTYLY, TYPE E2; BDE2


Related symptoms:

  • Short stature
  • Brachydactyly
  • Delayed eruption of teeth
  • Short metacarpal
  • Oligodontia


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE E2; BDE2

Low match ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD


ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD Is also known as chondrodysplasia, acromesomelic, with or without genital anomalies

Related symptoms:

  • Short stature
  • Brachydactyly
  • Talipes equinovarus
  • Hypogonadism
  • Amenorrhea


SOURCES: OMIM MESH MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE


Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE Is also known as spondylodysplasia and premature pubarche|semd, pakistani type|spondyloepimetaphyseal dysplasia, pakistani type

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Gait disturbance
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE

Low match RABSON-MENDENHALL SYNDROME


Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

Related symptoms:

  • Short stature
  • Peripheral neuropathy
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about RABSON-MENDENHALL SYNDROME

Low match JAWAD SYNDROME


Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

JAWAD SYNDROME Is also known as microcephaly with mental retardation and digital anomalies|kelly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cryptorchidism
  • Intellectual disability, severe
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JAWAD SYNDROME

Low match SALDINO-MAINZER SYNDROME


Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.

SALDINO-MAINZER SYNDROME Is also known as renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|conorenal syndrome

Related symptoms:

  • Short stature
  • Cryptorchidism
  • Delayed speech and language development
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about SALDINO-MAINZER SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Abnormality of the genital system

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Polydactyly Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Abnormality of the genital system. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Syndactyly Retinal dystrophy Cryptorchidism Postaxial polydactyly Hypogonadism External genital hypoplasia

Rare Symptoms - Less than 30% cases


Short femoral neck Amenorrhea Abnormality of the dentition Nyctalopia Cognitive impairment Short metacarpal Blindness Growth hormone excess Thick nail Prematurely aged appearance Long penis Intellectual disability, severe Advanced eruption of teeth Abnormality of the upper urinary tract Abnormality of the abdominal wall Female pseudohermaphroditism Microcephaly Retrognathia Aggressive behavior Abnormality of the thyroid gland Proteinuria Precocious puberty Diabetes mellitus Enlarged joints Lower limb undergrowth Lumbar scoliosis Premature pubarche Peripheral neuropathy Intrauterine growth retardation Mandibular prognathia Polycystic ovaries Coarse facial features Dry skin Thickened skin Generalized hirsutism Acanthosis nigricans Coarse hair Toe syndactyly Thoracic scoliosis Single transverse palmar crease Abnormality of the genitourinary system Micromelia Oral cleft Stage 5 chronic kidney disease Ectodermal dysplasia Short ribs Nephrocalcinosis Short long bone Cleft lip Metaphyseal widening Thoracic hypoplasia Short thorax Bell-shaped thorax Thoracic dysplasia Lateral clavicle hook Narrow chest Polyhydramnios Prominent nose Congenital microcephaly Sloping forehead Hallux valgus Anonychia Abnormality of digit Delayed epiphyseal ossification Short middle phalanx of the 5th finger 4-5 toe syndactyly Recurrent respiratory infections Single interphalangeal crease of fifth finger Absent fourth finger distal interphalangeal crease Delayed speech and language development Respiratory insufficiency Respiratory distress Renal insufficiency Spondyloepimetaphyseal dysplasia Scoliosis Irregular vertebral endplates Low-set ears Reduced sperm motility Abnormal spermatogenesis Congenital hypoplastic anemia Anemia of inadequate production Male infertility Progressive sensorineural hearing impairment Azoospermia Narrow palpebral fissure Bilateral sensorineural hearing impairment Infertility Synophrys Prominent nasal bridge High palate Anemia Sensorineural hearing impairment Prominent eyelashes Macular dystrophy Clinodactyly Reduced visual acuity Retinal degeneration Renal cyst Anosmia Visual impairment Severe vision loss Hearing impairment Global developmental delay Retinopathy Pigmentary retinopathy Renal hypoplasia Tricuspid regurgitation Unilateral renal hypoplasia Moderate hearing impairment Delayed eruption of teeth Secondary amenorrhea Disproportionate short stature Bowing of the legs Acne Hirsutism Platyspondyly Skeletal dysplasia Kyphoscoliosis Gait disturbance Widened proximal tibial metaphyses Aplasia of the proximal phalanges of the hand Aplasia/Hypoplasia involving the metacarpal bones Fibular aplasia Ulnar deviation of the hand Broad foot Carpal synostosis Tarsal synostosis Oligodontia Short toe Short metatarsal Talipes equinovarus Limb undergrowth Primary amenorrhea Short phalanx of finger Hypergonadotropic hypogonadism Short finger Disproportionate short-limb short stature Radial deviation of finger Hypoplasia of the ulna Mild short stature Bilateral talipes equinovarus Hypoplasia of the uterus Horizontal ribs



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