Rod-cone dystrophy, and Upslanted palpebral fissure

Diseases related with Rod-cone dystrophy and Upslanted palpebral fissure

In the following list you will find some of the most common rare diseases related to Rod-cone dystrophy and Upslanted palpebral fissure that can help you solving undiagnosed cases.


Top matches:

High match RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME


RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME Is also known as retinal dystrophy-juvenile cataract-short stature syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Abnormal facial shape
  • Cataract
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME

High 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

High match CRANIOECTODERMAL DYSPLASIA 2; CED2


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

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Other less relevant matches:

High 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

High match ZELLWEGER SYNDROME


Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

High match JOUBERT SYNDROME 10; JBTS10


Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

High 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

High match AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA


Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.

AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as axial smd|smd, axial

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA

Medium match OPITZ GBBB SYNDROME, TYPE II; GBBB2


Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome, type ii|ogs2|opitz-frias syndrome|opitz gbbb syn

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

Medium match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Upslanted palpebral fissure

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Rod-cone dystrophy and Upslanted palpebral fissure. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Depressed nasal bridge Wide nasal bridge Nystagmus Posteriorly rotated ears Downslanted palpebral fissures High palate Brachydactyly Feeding difficulties Anteverted nares Abnormal facial shape Low-set ears Short neck Hernia Patent ductus arteriosus Craniosynostosis Ventricular septal defect Renal cyst Seizures High forehead Cataract Visual impairment Growth delay Hepatomegaly Sensorineural hearing impairment Strabismus Hearing impairment Cholestasis Renal insufficiency High, narrow palate Abnormal heart morphology Polydactyly Telecanthus Malar flattening Widely spaced teeth Generalized hypotonia Smooth philtrum Stage 5 chronic kidney disease Macrocephaly Retinal dystrophy Nyctalopia Cryptorchidism Short ribs Rhizomelia Cognitive impairment Microcephaly Low-set, posteriorly rotated ears Visual loss Retinal degeneration Prominent forehead Intellectual disability, mild Skeletal dysplasia Sparse hair

Rare Symptoms - Less than 30% cases


Rocker bottom foot Oral cleft Cutis laxa Plagiocephaly Atrial septal defect Proptosis Short distal phalanx of finger Postaxial polydactyly Abnormality of cardiovascular system morphology Macroglossia Bifid uvula Short femoral neck Hepatic fibrosis Recurrent urinary tract infections Patent foramen ovale Nephronophthisis Constipation Thoracic dysplasia Prominent metopic ridge Pneumonia Ataxia Umbilical hernia Postnatal growth retardation Cleft lip Metopic synostosis Cubitus valgus Respiratory insufficiency Abnormal cardiac septum morphology Cholangitis Abnormality of the kidney Bell-shaped thorax Gastroesophageal reflux Coarctation of aorta Cystic hygroma Left ventricular hypertrophy Short nose Narrow forehead Delayed skeletal maturation Splenomegaly Muscular hypotonia Abnormality of the skeletal system Delayed speech and language development Motor delay Cleft palate Hypertension Myopia Cerebellar vermis hypoplasia Agenesis of corpus callosum Pulmonary hypoplasia Enlarged cisterna magna EEG abnormality Blindness Hydronephrosis Feeding difficulties in infancy Deeply set eye Thin upper lip vermilion Polymicrogyria Glaucoma Hypospadias Limb undergrowth Microdontia Pectus excavatum Abnormality of the pinna Clinodactyly Optic atrophy Wide anterior fontanel Inguinal hernia Elevated hepatic transaminase Acidosis Dental malocclusion Polyhydramnios Pigmentary retinopathy Tracheoesophageal fistula Stridor Bicornuate uterus Abnormality of the urinary system Bilateral cleft lip Recurrent upper respiratory tract infections Sagittal craniosynostosis Cavum septum pellucidum Laryngomalacia Hiatus hernia Concave nasal ridge Megalencephaly Tracheomalacia Prominent occiput Diastasis recti Widow's peak Anal stenosis Oral-pharyngeal dysphagia Abnormality of the ureter Limb dystonia Weak cry Bifid scrotum Bilateral cleft lip and palate Abnormality of the respiratory system Ventriculomegaly Anosmia Metaphyseal irregularity Prominent sternum Anterior rib cupping Spondylometaphyseal dysplasia Ovoid vertebral bodies Thoracic kyphosis Bronchitis Metaphyseal dysplasia Thoracic hypoplasia Mild short stature Neonatal respiratory distress Aplasia/hypoplasia of the extremities Epiphyseal dysplasia Coxa vara Recurrent pneumonia Bowing of the long bones Abnormality of the metaphysis Progressive visual loss Astigmatism Delayed puberty Platyspondyly Narrow greater sacrosciatic notches Cupped ribs Cardiac arrest Anal atresia Hoarse voice Aortic valve stenosis Aspiration Pulmonary arterial hypertension Dandy-Walker malformation Intestinal malrotation Vesicoureteral reflux Iris coloboma Cleft upper lip Prominent nasal bridge Proximal femoral metaphyseal irregularity Cough Coloboma Conductive hearing impairment Micropenis Cerebral cortical atrophy Dystonia Ankyloglossia Dysphagia Irregular iliac crest Enchondroma Dilated fourth ventricle Bruising susceptibility Inspiratory stridor Neurofibromas Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Male infertility Abnormality of color vision Atrial flutter Leukocytosis Abnormality of the coagulation cascade Radial deviation of finger Myelodysplasia Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Poor suck Arnold-Chiari malformation Nonimmune hydrops fetalis Restrictive cardiomyopathy Azoospermia Neurofibrosarcoma Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Reduced factor XII activity Shield chest Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Bicuspid aortic valve Lymphedema Unilateral cleft lip Rectourethral fistula Vomiting Edema Cardiomyopathy Fever Ptosis Pain Neoplasm Absent pulmonary artery Posterior pharyngeal cleft Headache Rectal atresia Vascular ring Laryngeal cleft Short lingual frenulum Hypoplasia of the epiglottis Hoarse cry Aplasia/Hypoplasia of the cerebellar vermis Cranial asymmetry Absent gallbladder Congestive heart failure Dilatation Amblyopia Abdominal distention Clumsiness Primary amenorrhea Low posterior hairline Ventricular hypertrophy Amenorrhea Wide intermamillary distance Webbed neck Abnormal bleeding Triangular face Thrombocytopenia Facial asymmetry Pulmonic stenosis Hypotrichosis Leukemia Broad forehead Hypertrophic cardiomyopathy Kyphoscoliosis Abdominal pain Hypogonadism Photophobia Prolonged neonatal jaundice Reduced visual acuity Scarring Exotropia Short phalanx of finger Renal dysplasia Sparse scalp hair Delayed eruption of teeth Nephropathy Abnormality of skin pigmentation Wide mouth Cone-shaped epiphysis Depressivity Hypoplasia of the corpus callosum Anemia Fused teeth Horizontal ribs Portal fibrosis Bile duct proliferation Cloverleaf skull Trigonocephaly Short thorax Biliary cirrhosis Frontal upsweep of hair Areflexia Encephalopathy Intellectual disability, severe Talipes equinovarus Failure to thrive Absence of renal corticomedullary differentiation Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Accessory oral frenulum Abnormal retinal morphology Pyelonephritis Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congenital hepatic fibrosis Cone-shaped epiphyses of the phalanges of the hand Recurrent lower respiratory tract infections Scaphocephaly Acute kidney injury Broad philtrum High anterior hairline Jaundice Delayed myelination Broad distal phalanx of finger Wide nasal base Broad columella Congenital hypothyroidism Corneal dystrophy Progressive hearing impairment Broad thumb Short palpebral fissure Broad nasal tip Syndactyly Hypothyroidism Diabetes mellitus Alopecia Long philtrum Cerebellar atrophy Mottled pigmentation Cone dysfunction syndrome Retinopathy Abnormality of the dentition Midface retrusion Polysplenia Hydrops fetalis Cutaneous finger syndactyly Mesomelia Sparse eyebrow Preaxial polydactyly Chronic kidney disease Sparse eyelashes Narrow palpebral fissure Hyperbilirubinemia Postaxial hand polydactyly Retrognathia Ectodermal dysplasia Full cheeks Everted lower lip vermilion Narrow chest Dolichocephaly Blepharophimosis Joint laxity Proteinuria Hyporeflexia Corneal opacity Kyphosis Renal cortical cysts Very long chain fatty acid accumulation Elevated long chain fatty acids Subependymal cysts Hyperoxaluria Brushfield spots Renal cortical microcysts Albuminuria Abnormal chorioretinal morphology Ulnar deviation of the hand or of fingers of the hand Intrahepatic biliary dysgenesis Widely patent fontanelles and sutures Glutaric aciduria Intestinal lymphangiectasia Brachyturricephaly Abnormality of the tongue Hepatic cysts Tapetoretinal degeneration Ulnar deviation of the hand Sudanophilic leukodystrophy Hypoplastic olfactory lobes Abnormality of the mitochondrion Intellectual disability, moderate Respiratory distress Scoliosis Metaphyseal chondrodysplasia Congenital blindness Horseshoe kidney Small nail Underdeveloped nasal alae Short metacarpal Macrotia Recurrent infections Infra-orbital crease Molar tooth sign on MRI Deep philtrum Encephalocele Intellectual disability, profound Thick vermilion border Hirsutism Absent speech Profound global developmental delay Labial hypoplasia Malabsorption Hypoplasia of dental enamel Intellectual disability, progressive Opacification of the corneal stroma Nephrocalcinosis Aminoaciduria Multicystic kidney dysplasia Leukodystrophy Decreased liver function Large fontanelles Pachygyria Reduced tendon reflexes Heterotopia Optic disc pallor Aciduria Premature birth Round face Single transverse palmar crease Flat face Hepatic failure Severe muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Redundant neck skin Underdeveloped supraorbital ridges Abnormality of the helix Breech presentation Thickened nuchal skin fold Adrenal hypoplasia Posterior embryotoxon External ear malformation Epiphyseal stippling Primary adrenal insufficiency Protruding tongue Abnormal electroretinogram Congenital glaucoma Abnormality of coagulation Abnormality of neuronal migration Metatarsus adductus Flat occiput Clitoral hypertrophy Pyloric stenosis Polycystic kidney dysplasia Postductal coarctation of the aorta



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Developmental regression, related diseases and genetic alterations

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