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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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
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
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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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
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
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
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
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
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
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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