Brachydactyly, and Blindness

Diseases related with Brachydactyly and Blindness

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


Top matches:

High 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium 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

Medium 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

Medium 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

Medium 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

Medium 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

Medium match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Blindness

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Brachycephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Rod-cone dystrophy Myopia Nyctalopia Hearing impairment Depressed nasal bridge Proptosis Short neck Hypertelorism Misalignment of teeth Obesity Polydactyly Retinal dystrophy Retinal degeneration

Rare Symptoms - Less than 30% cases


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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Fatigue, related diseases and genetic alterations Dysarthria and Vertigo, related diseases and genetic alterations

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