Brachydactyly, and Reduced visual acuity

Diseases related with Brachydactyly and Reduced visual acuity

In the following list you will find some of the most common rare diseases related to Brachydactyly and Reduced visual acuity 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 SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Low match BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME


Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Low match GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME


Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).

GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME Is also known as gemss|mesodermal dysmorphodystrophy, congenital|gemss syndrome|weill-marchesani syndrome, autosomal dominant|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME

Low match WEILL-MARCHESANI SYNDROME 1; WMS1


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). Genetic Heterogeneity of Weill-Marchesani SyndromeA phenotypically similar, autosomal dominant form of WMS (WMS2 ) is caused by mutation in the FBN1 gene (OMIM ) on chromosome 15q21. Autosomal recessive WMS3 (OMIM ) is caused by mutation in the LTBP2 gene (OMIM ) on chromosome 14q24. Autosomal recessive WMS4 (OMIM ) is caused by mutation in the ADAMTS17 gene (OMIM ) on chromosome 15q24.

WEILL-MARCHESANI SYNDROME 1; WMS1 Is also known as weill-marchesani syndrome, autosomal recessive|mesodermal dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about WEILL-MARCHESANI SYNDROME 1; WMS1

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

Low match METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE


Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE Is also known as metaphyseal chondrodysplasia, murk jansen type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE

Top 5 symptoms//phenotypes associated to Brachydactyly and Reduced visual acuity

Symptoms // Phenotype % cases
Blindness Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Brachycephaly Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Reduced visual acuity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Rod-cone dystrophy Ventricular septal defect Polydactyly Nyctalopia Global developmental delay Retinal dystrophy Myopia External genital hypoplasia Proptosis Misalignment of teeth Postaxial polydactyly Retinal degeneration Syndactyly

Rare Symptoms - Less than 30% cases


Cataract Metaphyseal chondrodysplasia Thickened skin Mitral regurgitation Frontal bossing Lumbar hyperlordosis High myopia Hypoplasia of the maxilla Pulmonic stenosis Scoliosis Joint stiffness Glaucoma Abnormal heart morphology Patent ductus arteriosus Intellectual disability, mild Aortic valve stenosis Depressed nasal bridge Short long bone Spinal canal stenosis Narrow palate Broad metatarsal Abnormality of the skeletal system Overgrowth Splenomegaly Hepatomegaly Hearing impairment Broad skull Microspherophakia Broad metacarpals Shallow anterior chamber Ectopia lentis Thin bony cortex Broad ribs Micrognathia Shallow orbits Short ribs Proportionate short stature Broad palm Abnormality of dental morphology Macrocephaly Broad phalanges of the hand Growth delay Clinodactyly Hypertelorism Cognitive impairment Renal cyst Short neck Hypogonadism Visual impairment Oral cleft Stage 5 chronic kidney disease Hepatic failure Postaxial hand polydactyly Rhizomelia Cerebellar vermis hypoplasia Cholestasis Short phalanx of finger Hepatic fibrosis Abnormality of the dentition Oculomotor apraxia Chronic kidney disease Genu valgum Visual loss Cleft lip Inflammatory abnormality of the eye Arthropathy Amyloidosis Uveitis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Elevated C-reactive protein level Abnormality of neutrophils Glucose intolerance Pseudopapilledema Retrobulbar optic neuritis Abnormal granulocyte morphology Ventriculomegaly Respiratory insufficiency Respiratory distress Hydrocephalus Renal insufficiency Cone-shaped epiphysis Blue cone monochromacy Thoracic hypoplasia Hypoparathyroidism Prominent supraorbital ridges Hypercalcemia Rickets Bowing of the legs Hypophosphatemia Pathologic fracture Hip contracture Upper limb undergrowth Elevated alkaline phosphatase Choanal stenosis Clubbing of fingers Hyperphosphaturia Enlarged joints Metaphyseal cupping Wide cranial sutures Metaphyseal dysostosis Thick skull base Hypercalciuria Disproportionate short-limb short stature Progressive sensorineural hearing impairment Clinodactyly of the 5th finger Visual field defect Nephronophthisis Bell-shaped thorax Cone-shaped epiphyses of the phalanges of the hand Thoracic dysplasia Lateral clavicle hook Flexion contracture Severe short stature Osteolysis Kyphoscoliosis Osteopenia Retrognathia Waddling gait Choanal atresia Bowing of the long bones Knee flexion contracture Nephrocalcinosis Abnormal joint morphology Reduced bone mineral density Elevated erythrocyte sedimentation rate Thin vermilion border Fine hair Narrow forehead Progressive visual loss Single transverse palmar crease Small hand Thick eyebrow Long face Congenital blindness Micromelia Facial asymmetry Hypermetropia Postnatal growth retardation Delayed skeletal maturation Long philtrum Optic atrophy Sandal gap Horseshoe kidney Muscular hypotonia Dyschromatopsia Nonprogressive visual loss Prominent glabella Low-set ears Feeding difficulties Delayed speech and language development Achromatopsia Downslanted palpebral fissures Cutis laxa Small nail Malar flattening Macrotia Intellectual disability, moderate Craniosynostosis Short distal phalanx of finger Short metacarpal Underdeveloped nasal alae Epicanthus Strabismus Leukocytosis Migraine EEG abnormality Myalgia Arthritis Skin rash Papule Nausea and vomiting Lymphadenopathy Premature birth Arthralgia Meningitis Vasculitis Joint dislocation Purpura Increased intracranial pressure Hyposegmentation of neutrophil nuclei Urticaria Hepatosplenomegaly Skeletal dysplasia Generalized hypotonia Cryptorchidism Unilateral renal hypoplasia Tricuspid regurgitation Renal hypoplasia Pigmentary retinopathy Retinopathy Severe vision loss Macular dystrophy Osteoporosis Edema Mitral valve prolapse Anosmia Sensorineural hearing impairment Abnormal facial shape Anemia Fever Fatigue Prominent supraorbital arches in adult



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