Rod-cone dystrophy, and Joint hypermobility

Diseases related with Rod-cone dystrophy and Joint hypermobility

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


Top matches:

Medium match CRANIOECTODERMAL DYSPLASIA 4; CED4


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:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Medium match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Low match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

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Other less relevant matches:

Low match COHEN SYNDROME


Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about COHEN SYNDROME

Low match ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME


Alacrimia-choreoathetosis-liver dysfunction syndrome is a rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.

ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME Is also known as cdg1v, formerly|congenital disorder of glycosylation, type iv, formerly|ngly1 deficiency|ngly1-cddg

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALACRIMIA-CHOREOATHETOSIS-LIVER DYSFUNCTION SYNDROME

Low match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

Low match RETINITIS PIGMENTOSA 40; RP40


Related symptoms:

  • Rod-cone dystrophy
  • Abnormal light- and dark-adapted electroretinogram


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 40; RP40

Low match BARDET-BIEDL SYNDROME 14; BBS14


BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008).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
  • Obesity
  • Rod-cone dystrophy


SOURCES: OMIM MESH MENDELIAN

More info about BARDET-BIEDL SYNDROME 14; BBS14

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Joint hypermobility

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Joint hyperflexibility Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Rod-cone dystrophy and Joint hypermobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Scoliosis Pectus excavatum Optic atrophy Nystagmus Short stature Failure to thrive High, narrow palate Growth delay Respiratory distress Sensorineural hearing impairment Finger syndactyly Clinodactyly of the 5th finger Obesity Myopia Muscular hypotonia Strabismus Failure to thrive in infancy Single transverse palmar crease Hearing impairment Nephropathy Abnormality of the skeletal system Abnormality of the dentition Renal insufficiency Protruding ear

Rare Symptoms - Less than 30% cases


Gingival overgrowth Abnormality of the hip bone Short philtrum Respiratory tract infection Chorioretinal dystrophy Postnatal growth retardation Feeding difficulties in infancy Joint laxity Weak cry Hernia Kyphosis Microphthalmia Narrow palm Ventricular septal defect Downslanted palpebral fissures Intrauterine growth retardation Ptosis Cryptorchidism Macrodontia Micrognathia Hypertelorism Thick hair Aplasia/Hypoplasia of the earlobes Prominent nasal bridge Delayed puberty Neurological speech impairment Low anterior hairline Open mouth Hepatomegaly Decreased fetal movement Mitral valve prolapse Abnormality of retinal pigmentation Hypoplasia of the maxilla Neutropenia Preauricular skin tag Tapered finger Osteoporosis Small hand Sandal gap Long eyelashes Slender toe Aciduria Cat cry Reduced number of teeth Cubitus valgus Abnormality of dental morphology Retinal dystrophy Iris coloboma Thick eyebrow Abnormality of skin pigmentation Arachnodactyly Genu valgum Apraxia High palate Cutis laxa Ectodermal dysplasia Myoclonus Elevated serum creatinine Short distal phalanx of finger Full cheeks Hepatic failure Stroke Encephalopathy Smooth philtrum Limb undergrowth Hepatic fibrosis Visual loss Respiratory failure Chronic kidney disease Cone/cone-rod dystrophy Stage 5 chronic kidney disease Sagittal craniosynostosis Narrow chest Craniosynostosis Abnormal facial shape Cardiomyopathy Frontal bossing Brachydactyly Cataract Motor delay Ventriculomegaly Apnea Dystonia Tubulointerstitial nephritis Tremor Elevated hepatic transaminase Thin nail Taurodontia Anodontia Hyporeflexia Splenomegaly Difficulty walking Abnormal toenail morphology Constipation Recurrent respiratory infections Flattened epiphysis Hyperhidrosis EEG abnormality Abnormality of the abdominal wall Slow-growing hair Abnormal diaphysis morphology Hepatic cysts Hypoplasia of dental enamel Aplasia/Hypoplasia of the tongue Fever Chorioretinal dysplasia Malformation of the hepatic ductal plate Recurrent aphthous stomatitis Tapetoretinal degeneration Iris atrophy Bull's eye maculopathy Granulocytopenia Congenital neutropenia Hyperplasia of the maxilla Laryngeal stenosis Broad distal phalanges of all fingers Cutis gyrata of scalp Incisional hernia Hemeralopia Narrow philtrum High-pitched cry Interstitial pneumonitis Hypoplasia of the zygomatic bone Peripheral neuropathy Pain Short nail Abnormality of the liver Abnormal eyelid morphology Tubulointerstitial abnormality Broad toe Thick corpus callosum Abnormal eyelash morphology Hypoplastic philtrum Renal magnesium wasting Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Abnormality of the eye Fibular hypoplasia Scaphocephaly Decreased sensory nerve conduction velocity Decreased CSF albumin Decreased CSF 5-hydroxyindolacetic acid High myoinositol in brain by MRS Intrinsic hand muscle atrophy Perivascular spaces Corneal ulceration Elevated alpha-fetoprotein Epicanthus Alacrima Short ribs Hypocalcemia Abnormality of dental enamel Abnormality of the fingernails Widely spaced teeth Bone spicule pigmentation of the retina Decreased CSF/serum albumin ratio Wide nasal bridge Action tremor Dolichocephaly Abnormality of the metaphysis Fine hair Hypotelorism Rhizomelia Microdontia Hypodontia Everted lower lip vermilion Sparse hair Anteverted nares Telecanthus Photophobia High forehead Clinodactyly Short toe Abnormality of cardiovascular system morphology Congestive heart failure Pain insensitivity Bicuspid aortic valve Protuberant abdomen Prominent occiput Gliosis Recurrent fractures Polyneuropathy Short foot Short thorax Paresthesia High hypermetropia Increased serum lactate Dysmetria Abnormality of movement Abnormality of eye movement Corneal opacity Short humerus Omphalocele Scarring Delayed myelination Choreoathetosis Redundant skin Oral-pharyngeal dysphagia Blepharitis Radial deviation of finger Restlessness Axonal loss Muscle fibrillation Anhidrosis Cupped ear Hyperkinesis Involuntary movements Sleep apnea Thoracic hypoplasia Coxa valga Aspiration Decreased liver function Postnatal microcephaly Decreased body weight Abnormality of the larynx Progressive visual loss Macular edema Progressive neurologic deterioration Hyperextensible skin Ragged-red muscle fibers Oculomotor apraxia Exercise intolerance Hypergonadotropic hypogonadism Progressive muscle weakness Status epilepticus Glomerulonephritis Pancytopenia Nephrotic syndrome Bilateral sensorineural hearing impairment Specific learning disability Memory impairment Progressive cerebellar ataxia Glomerulosclerosis Ophthalmoparesis Postural instability Recurrent myoglobinuria Macrocephaly Depressed nasal bridge Visual impairment Crescentic glomerulonephritis Rapid neurologic deterioration Exercise-induced myoglobinuria Glutaric aciduria Focal segmental glomerulosclerosis Steroid-resistant nephrotic syndrome Scanning speech Tubular atrophy Myoglobinuria Glomerulopathy Generalized amyotrophy Muscle cramps Metabolic acidosis Blindness Recurrent pneumonia Ataxia Broad phalanx of the toes Pes valgus Broad distal phalanx of finger Cutaneous finger syndactyly Nephronophthisis Bone marrow hypocellularity Spasticity Hip dysplasia Asthma Thin vermilion border Hypermetropia Pneumonia Hypertension Muscle weakness Cognitive impairment Lactic acidosis Elevated serum creatine phosphokinase Abnormal pyramidal sign Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Proteinuria Acidosis Hypogonadism Cerebral atrophy Anemia Intellectual disability, mild Cerebellar atrophy Fatigue Gait disturbance Skeletal muscle atrophy Dysarthria Hyperreflexia Edema Behavioral abnormality Furrowed tongue Leukopenia Radioulnar synostosis Precocious puberty Short metatarsal Laryngomalacia Recurrent skin infections Venous thrombosis Intellectual disability, progressive Rheumatoid arthritis Progressive microcephaly Exotropia Tall stature Clumsiness Lumbar hyperlordosis High myopia Intracranial hemorrhage Constriction of peripheral visual field Pigmentary retinopathy Posterior subcapsular cataract Deep venous thrombosis Misalignment of teeth Facial hypotonia Vocal cord paralysis Microglossia Gingivitis Hiatus hernia Cerebral hemorrhage Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Celiac disease Narrow nasal bridge Truncal obesity Disproportionate tall stature Narrow forehead Convex nasal ridge Malar flattening Mandibular prognathia Thin upper lip vermilion Pes planus Retrognathia Kyphoscoliosis Macrotia Gastroesophageal reflux Hypothyroidism Arthritis Reduced visual acuity Diabetes mellitus Cerebellar hypoplasia Thrombocytopenia Recurrent infections Dilatation Neonatal hypotonia Intellectual disability, moderate Otitis media Thick vermilion border Growth hormone deficiency Prominent nose Short metacarpal Microcornea Highly arched eyebrow Retinal detachment Retinal degeneration Paralysis Astigmatism Synophrys Severe global developmental delay Small for gestational age Nyctalopia Retinopathy Wide mouth Abnormal light- and dark-adapted electroretinogram



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