Brachydactyly, and Glaucoma

Diseases related with Brachydactyly and Glaucoma

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


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Low match ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by Shah et al., 2014).For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (OMIM ).

ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME Is also known as wmsl|weill-marchesani-like syndrome|15q26.3 microdeletion syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Myopia
  • Optic atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME

Low match WEILL-MARCHESANI SYNDROME


Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

WEILL-MARCHESANI SYNDROME Is also known as spherophakia-brachymorphia syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Ventricular septal defect
  • Intellectual disability, mild


SOURCES: ORPHANET MENDELIAN

More info about WEILL-MARCHESANI SYNDROME

Low match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

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Low match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Low match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM 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 SHORT SYNDROME


SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Low match BARDET-BIEDL SYNDROME 1; BBS1


Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

Low match DESBUQUOIS DYSPLASIA 1; DBQD1


Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Top 5 symptoms//phenotypes associated to Brachydactyly and Glaucoma

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Thickened skin Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Intellectual disability, mild Diabetes mellitus Pulmonic stenosis Ectopia lentis High myopia Scoliosis Joint stiffness Aortic valve stenosis Abnormal facial shape Delayed speech and language development Macrocephaly Depressed nasal bridge Global developmental delay Alopecia Strabismus Nystagmus Abnormal heart morphology Mitral regurgitation Ventricular septal defect Microspherophakia Brachycephaly

Rare Symptoms - Less than 30% cases


Spinal canal stenosis Shallow anterior chamber Short nose Anteverted nares Hypertension Motor delay Visual impairment Thin bony cortex Low-set ears Sensorineural hearing impairment Rod-cone dystrophy Broad metatarsal Broad metacarpals Broad skull Neurological speech impairment Hypodontia Broad phalanges of the hand Iris coloboma Telecanthus Joint laxity Severe short stature Narrow palate Broad palm Proportionate short stature Lumbar hyperlordosis Shallow orbits Hypoplasia of the maxilla Misalignment of teeth Patent ductus arteriosus Blindness Micrognathia High forehead Intrauterine growth retardation Broad ribs Malar flattening Midface retrusion Broad thumb Clinodactyly Deeply set eye Abnormality of dental morphology Obesity Frontal bossing Osteoporosis Hypertelorism Short palm Increased intraocular pressure Abnormality of the kidney Abnormality of cardiovascular system morphology Microcephaly Weight loss Corneal opacity Wide nasal bridge Radial deviation of finger Congenital glaucoma Cryptorchidism Epicanthus Menstrual irregularities Specific learning disability Short neck Decreased testicular size Asthma Nephronophthisis Short foot High, narrow palate Retinal dystrophy Undetectable electroretinogram Postaxial polydactyly Hirsutism Stage 5 chronic kidney disease Pigmentary retinopathy Retinal degeneration Astigmatism Broad foot Paraplegia Retinopathy Coloboma Poor coordination Reduced visual acuity Micropenis Foot polydactyly Polydactyly Amenorrhea Talipes equinovarus Tapetoretinal degeneration Hepatic fibrosis Microphallus Biliary tract abnormality Vaginal atresia Truncal obesity External genital hypoplasia Macular dystrophy Hypoplasia of the uterus Tricuspid regurgitation Clubbing Anosmia Bicuspid aortic valve Situs inversus totalis Nephrogenic diabetes insipidus Muscular hypotonia Dental crowding Left ventricular hypertrophy Abnormality of the ovary Hydrometrocolpos Septate vagina Aganglionic megacolon Abnormality of the genital system Gait imbalance Primary amenorrhea Generalized hypotonia Growth delay Postaxial hand polydactyly Respiratory distress Hyperlordosis Edema Irregular vertebral endplates Broad femoral neck Coronal cleft vertebrae Generalized osteoporosis Short 1st metacarpal Generalized joint laxity Flat acetabular roof Protuberant abdomen Flattened epiphysis Cystic hygroma Thoracic hypoplasia Short femoral neck Metaphyseal widening Abnormality of the hand Short metatarsal Open angle glaucoma Hypoplastic vertebral bodies Disproportionate short-limb short stature Phalangeal dislocation Medial deviation of the foot Radioulnar dislocation Broad first metatarsal Proximal fibular overgrowth Multiple carpal ossification centers Supernumerary metacarpal bones Partial duplication of the distal phalanx of the hallux Vertebral clefting Advanced tarsal ossification Bifid distal phalanx of the thumb Large joint dislocations Multiple joint dislocation Advanced ossification of carpal bones Long upper lip Genu varum Sandal gap Kyphosis Skeletal dysplasia Smooth philtrum Narrow chest Platyspondyly Postnatal growth retardation Arthritis Pes planus Osteopenia Flat face Kyphoscoliosis Proptosis Narrow mouth Respiratory failure Dilatation Immunodeficiency Micromelia Short distal phalanx of finger Microretrognathia Osteoarthritis Coxa vara Joint dislocation Coxa valga Horseshoe kidney Rhizomelia Bowing of the long bones Depressed nasal ridge Renal cyst Wide intermamillary distance Nail dysplasia Waddling gait Short metacarpal Round face Abdominal distention Hypogonadism Microdontia Syndactyly Melanocytic nevus Hypergranulosis Generalized hyperkeratosis Diffuse palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Patchy palmoplantar keratoderma Neoplasm Hydrocephalus Mandibular prognathia Carious teeth Arachnodactyly Cerebral calcification Hypogonadotrophic hypogonadism Hemivertebrae Vertebral fusion Irregular hyperpigmentation Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Plantar pits Cerebellar atrophy Long philtrum Posteriorly rotated ears Upslanted palpebral fissure Hypothyroidism Thin upper lip vermilion Low-set, posteriorly rotated ears Sparse hair Broad nasal tip Abnormality of the testis Macule Short palpebral fissure Protruding ear Optic atrophy Exotropia Anterior synechiae of the anterior chamber Mydriasis Iridodonesis Retinal hole Phakodonesis Visual loss Limitation of joint mobility Short thumb Hyperhidrosis Hyperkeratosis Erythema Skin rash Hypermelanotic macule Pruritus Dry skin Tapered finger Palmoplantar keratoderma Abnormal blistering of the skin Epidermal acanthosis Cutaneous photosensitivity Hypertrichosis Abnormality of the hair Abnormality of the nail Generalized hirsutism Neoplasm of the skin Palmoplantar hyperkeratosis Scaling skin Delayed myelination Progressive hearing impairment Renal insufficiency Posterior embryotoxon Short chin Abnormality of dental enamel Opacification of the corneal stroma Prominent supraorbital ridges Lipodystrophy Hyperglycemia Glucose intolerance Reduced subcutaneous adipose tissue Lipoatrophy Abnormality of the immune system Poor appetite Megalocornea Insulin-resistant diabetes mellitus Hypoplasia of the iris Congenital hip dislocation Premature skin wrinkling Abnormal pupil morphology Dimple chin Excessive wrinkled skin Abnormal anterior chamber morphology Narrow naris Abnormality of the mandible Rieger anomaly Enlarged epiphyses Birth length less than 3rd percentile Hypoplastic facial bones Abnormality of the zygomatic bone Ataxia High palate Nephrocalcinosis Increased body weight Corneal dystrophy Small for gestational age Congenital hypothyroidism Broad columella Wide nasal base Broad distal phalanx of finger Mitral valve prolapse Failure to thrive Abnormality of the dentition Hernia Depressivity Inguinal hernia Delayed skeletal maturation Prominent forehead Macrotia Hip dislocation Insulin resistance Hypotrichosis Joint hyperflexibility Joint hypermobility Downturned corners of mouth Delayed eruption of teeth Microcornea Triangular face Dental malocclusion Underdeveloped nasal alae Abnormality of the skin Bilateral sensorineural hearing impairment Thin skin Abnormality of the face Decreased body weight Splayed fingers



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