Brachydactyly, and Macular degeneration

Diseases related with Brachydactyly and Macular degeneration

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


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Low match SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME


Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

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 SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4


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 ).

SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4 Is also known as asphyxiating thoracic dystrophy 4|atd4

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Respiratory insufficiency
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4

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Low match BARDET-BIEDL SYNDROME 17; BBS17


BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

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 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 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 SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


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 ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Low match SYNDROMIC MICROPHTHALMIA TYPE 5


Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Low match MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2


MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 Is also known as maculopathy, age-related, 2|macular degeneration, senile

Related symptoms:

  • Macular degeneration


SOURCES: MESH OMIM MENDELIAN

More info about MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

Top 5 symptoms//phenotypes associated to Brachydactyly and Macular degeneration

Symptoms // Phenotype % cases
Retinal degeneration Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Retinal dystrophy Common - Between 50% and 80% cases
Polydactyly Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Stage 5 chronic kidney disease Rod-cone dystrophy Respiratory insufficiency Renal insufficiency Renal cyst Postaxial polydactyly Obesity Nystagmus Nyctalopia Hypogonadism Blindness Cognitive impairment Cleft lip Anosmia External genital hypoplasia Oral cleft Short ribs Thoracic dysplasia Micropenis Micrognathia Nephronophthisis Cataract Cryptorchidism Hepatic fibrosis Myopia Astigmatism Coloboma Visual loss Visual impairment

Rare Symptoms - Less than 30% cases


Situs inversus totalis Downslanted palpebral fissures Macrocephaly Delayed speech and language development Strabismus Foot polydactyly Rhizomelia Abnormal facial shape Ventricular septal defect Microphthalmia Short long bone Photophobia Reduced visual acuity Frontal bossing Short neck Syndactyly Cone-shaped epiphysis Pigmentary retinopathy Retinopathy Abnormality of the kidney High palate Ataxia Cone-shaped epiphyses of the phalanges of the hand Seizures Scoliosis Scarring Short phalanx of finger Cholestasis Postaxial hand polydactyly Respiratory distress Posteriorly rotated ears Hepatomegaly Short distal phalanx of finger Craniosynostosis Short metacarpal Undetectable electroretinogram Cone/cone-rod dystrophy Scaphocephaly Epicanthus Ectopic posterior pituitary Microcephaly Hypertelorism Central hypothyroidism Anemia Depressed nasal bridge Retinal dysplasia Hypoplasia of the fovea Microglossia Posterior embryotoxon Hydrometrocolpos Wide nasal bridge Hypoplasia of the corpus callosum Hernia Depressivity Short middle phalanx of finger Pneumonia Anophthalmia Optic nerve hypoplasia Prominent forehead Septate vagina Nephrogenic diabetes insipidus Mandibular aplasia Broad foot Dental crowding Bicuspid aortic valve Clubbing Radial deviation of finger Tricuspid regurgitation Hypoplasia of the uterus Macular dystrophy Truncal obesity Poor coordination Gait imbalance High forehead Abnormality of the ovary Myopic astigmatism Aglossia Vaginal atresia Menstrual irregularities Tapetoretinal degeneration Proboscis Microphallus Macular scar Biliary tract abnormality Upslanted palpebral fissure Skeletal dysplasia Prominent metopic ridge Wide anterior fontanel Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Frontal upsweep of hair Renal dysplasia Accessory oral frenulum Pyelonephritis Recurrent urinary tract infections Hypoplasia of the capital femoral epiphysis Exotropia Cutis laxa Generalized hypotonia Widely spaced teeth Pancreatic cysts Trigonocephaly Congenital hepatic fibrosis Short femoral neck Cholangitis Short thorax Recurrent lower respiratory tract infections Abnormal retinal morphology Acute kidney injury Absence of renal corticomedullary differentiation Sparse scalp hair Umbilical hernia Agenesis of corpus callosum Arnold-Chiari malformation Microretrognathia Low-set, posteriorly rotated ears Wide mouth Hypoplasia of the maxilla Microcornea Joint laxity Hypothyroidism Narrow mouth Intellectual disability, severe Narrow forehead Smooth philtrum Abnormality of skin pigmentation Talipes equinovarus Nephropathy Delayed eruption of teeth Macroglossia Bifid uvula Aganglionic megacolon Microdontia Cleft palate Left ventricular hypertrophy Hypertension Abnormality of the genital system Abnormality of the ribs Narrow greater sacrosciatic notches Retinal thinning Severe platyspondyly Cupped ribs Large central visual field defect Tibial torsion Hypoplastic inferior ilia Bowing of the long bones Recurrent otitis media Limb undergrowth Abnormality of macular pigmentation Abnormality of the dentition Progressive visual loss Clinodactyly Waddling gait Dental malocclusion Short palm Platyspondyly Joint stiffness Postnatal growth retardation Narrow chest Decreased hip abduction Limited elbow movement Severe short stature Macular atrophy Metaphyseal widening Metaphyseal irregularity Bowing of the legs Flared metaphysis Abnormality of color vision Femoral bowing Tibial bowing Short finger High hypermetropia Disproportionate short stature Thoracic scoliosis Cone dysfunction syndrome Iris hypopigmentation Peripheral visual field loss Retinal atrophy Beaking of vertebral bodies Ovoid vertebral bodies Ectopia pupillae Optic nerve coloboma Enlarged joints Spondylometaphyseal dysplasia Metaphyseal cupping Hyperlordosis Hepatic cysts Primary amenorrhea Neurological speech impairment Thoracic hypoplasia Visual field defect Failure to thrive Bell-shaped thorax Lateral clavicle hook Hearing impairment Growth delay Coxa vara Diabetes mellitus Glaucoma Pulmonic stenosis Chronic kidney disease Paraplegia Hirsutism Iris coloboma High, narrow palate Short foot Hypodontia Asthma Decreased testicular size Specific learning disability Amenorrhea Glucose intolerance Oculomotor apraxia Polydipsia Intellectual disability, moderate Polyuria Postaxial foot polydactyly Hyposmia Bilateral postaxial polydactyly Mesoaxial polydactyly Y-shaped metacarpals Low-set ears Feeding difficulties Malar flattening Macrotia Underdeveloped nasal alae Cerebellar vermis hypoplasia Small nail Horseshoe kidney Congenital blindness Metaphyseal chondrodysplasia Abnormality of the skeletal system Ventriculomegaly Hydrocephalus Splenomegaly Genu valgum Hepatic failure



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