Rod-cone dystrophy, and Joint stiffness

Diseases related with Rod-cone dystrophy and Joint stiffness

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

Top matches:

Medium match LOWRY-WOOD SYNDROME

Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa (see this term) and coxa vara. Transmission appears to be autosomal recessive.

LOWRY-WOOD SYNDROME Is also known as lowry-wood syndrome|lws|epiphyseal dysplasia-microcephaly-nystagmus syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Nystagmus
  • Visual impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LOWRY-WOOD SYNDROME

Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Other less relevant matches:

Medium match WERNER SYNDROME

Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Medium match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

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

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormality of retinal pigmentation Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Hearing impairment Congestive heart failure Hypertelorism Retinopathy Ptosis Hepatomegaly Splenomegaly Growth delay Scoliosis Coarse facial features Hepatosplenomegaly Flexion contracture Diarrhea Cataract Failure to thrive Microcephaly Astigmatism Postnatal growth retardation Nystagmus

Rare Symptoms - Less than 30% cases

Nyctalopia Alopecia Severe short stature Recurrent otitis media Short neck Epicanthus Retinal dystrophy Hypertension Hyperlordosis High palate Peripheral visual field loss Cleft palate Sensorineural hearing impairment Strabismus Micrognathia Macular atrophy Sepsis Progressive neurologic deterioration Dysostosis multiplex Enlarged joints Posterior subcapsular cataract Subcapsular cataract Hoarse voice Decreased body weight Hypopigmentation of the skin Peripheral neuropathy Pain Generalized hypotonia Neoplasm Retinal fold Adducted thumb Abnormal facial shape Pneumonia Narrow face Triangular face Heparan sulfate excretion in urine Cardiomyopathy Umbilical hernia Aplasia/Hypoplasia of the corpus callosum Behavioral abnormality Arthralgia Coxa vara Sleep disturbance Hypertrichosis Low-set ears Dolichocephaly Respiratory tract infection Motor delay Platyspondyly Tapetoretinal degeneration Brachydactyly Depressed nasal bridge Apnea Attention deficit hyperactivity disorder Corneal opacity Abnormality of the cerebral white matter Neurodegeneration Osteopenia Restlessness Small for gestational age Pes cavus Inguinal hernia Kyphosis Postural instability Hydrocephalus Macrocephaly Cognitive impairment Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Delayed eruption of teeth Spastic tetraplegia Tetraplegia Corneal dystrophy Cervical cord compression Urinary glycosaminoglycan excretion Intestinal pseudo-obstruction Myelopathy Obstructive sleep apnea Papilledema Scaphocephaly Abnormal heart valve morphology Mild short stature Incoordination Sleep apnea Widely spaced teeth Macroglossia Aortic regurgitation Spastic tetraparesis Intellectual disability, progressive Exercise intolerance Elbow flexion contracture Split hand Tetraparesis Thick lower lip vermilion Intellectual disability, profound Aplasia/Hypoplasia of the macula Pigmentary retinopathy Asthma Ureteral atresia Muscle flaccidity Decreased T cell activation Albinism IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Renal tubular acidosis Centrally nucleated skeletal muscle fibers Bronchitis Hip dislocation Neurodevelopmental delay Combined immunodeficiency Congenital sensorineural hearing impairment Severe failure to thrive Poor suck Infantile muscular hypotonia Leukopenia Recurrent bacterial infections Increased body weight Aspiration Lymphopenia Progressive microcephaly Decreased liver function Left ventricular hypertrophy Heterotopia Aspiration pneumonia Depressed nasal tip Cutaneous anergy Pontocerebellar atrophy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Retinoschisis Abnormality of the cerebellar vermis Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Granulocytopenia Ocular albinism Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Hypoplasia of the pons Fair hair Renal tubular dysfunction Tracheobronchomalacia Vomiting Dermatan sulfate excretion in urine Short palm Metaphyseal widening Cone/cone-rod dystrophy Rhizomelia Bowing of the long bones Abnormality of the ribs Limb undergrowth Progressive visual loss Waddling gait Short metacarpal Dental malocclusion Coloboma Bowing of the legs Photophobia Visual loss Microphthalmia Myopia Pharyngitis Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Erysipelas Porokeratosis Metaphyseal irregularity Flared metaphysis Increased IgA level Spondylometaphyseal dysplasia Tibial torsion Large central visual field defect Cupped ribs Severe platyspondyly Retinal thinning Narrow greater sacrosciatic notches Decreased hip abduction Abnormality of macular pigmentation Limited elbow movement Cone dysfunction syndrome Metaphyseal cupping Optic nerve coloboma Abnormality of color vision Ectopia pupillae Ovoid vertebral bodies Beaking of vertebral bodies Retinal atrophy Iris hypopigmentation Thoracic scoliosis Disproportionate short stature High hypermetropia Short finger Tibial bowing Femoral bowing Neuritis Chills Ataxia Pallor Intellectual disability, mild Nausea Lymphadenopathy Vertigo Infertility Papule Cough Skin rash Delayed skeletal maturation Erythema Arthritis Limitation of joint mobility Myalgia Abdominal pain Hyperhidrosis Constipation Depressivity Headache Renal insufficiency Blindness Frontal bossing Fatigue Fever Abdominal distention Migraine Recurrent aphthous stomatitis Intestinal obstruction Peritonitis Large forehead Acrocyanosis Poor coordination Uveitis Episodic fever Amyloidosis Colitis Elevated erythrocyte sedimentation rate Hypermelanotic macule Leukocytosis Apathy Gastrointestinal hemorrhage Urticaria Purpura Conjunctivitis Vasculitis Recurrent pneumonia Long eyelashes Nephrotic syndrome Optic disc pallor Eczema Dehydration Aciduria Open mouth Genu valgum Cerebellar vermis hypoplasia Congenital finger flexion contractures Small epiphyses Shallow acetabular fossae Multiple joint dislocation Internally rotated shoulders Exophoria Firm muscles Decreased facial expression Amyoplasia Limited wrist extension Absent phalangeal crease Round ear Abnormality of the dentition Keratoglobus Decreased palmar creases Ulnar deviation of the wrist Duane anomaly Unilateral ptosis Squared iliac bones Abnormality of the rib cage Overlapping fingers Hypoventilation Distal arthrogryposis Aplasia/Hypoplasia of the radius Skeletal muscle atrophy Osteoporosis Keratoconus Convex nasal ridge Hypergonadotropic hypogonadism Patellar dislocation Increased bone mineral density Abnormality of the hair Skin ulcer Insulin resistance Multiple epiphyseal dysplasia Sparse scalp hair Myocardial infarction Type II diabetes mellitus Decreased testicular size Chest pain Hypogonadism Coma Irregular epiphyses Small hand Nephropathy Retinal degeneration Leukemia Carcinoma Proptosis Micropenis Hyperkeratosis Diabetes mellitus Ulnar deviation of finger Abnormality of the sternum Type I diabetes mellitus Kyphoscoliosis Camptodactyly Deeply set eye Narrow mouth Areflexia Clinodactyly Pectus excavatum Hernia Hyperactivity Talipes equinovarus Wide nasal bridge Synophrys Protruding ear Hirsutism Everted lower lip vermilion Growth abnormality Cellular metachromasia Dense calvaria Ovoid thoracolumbar vertebrae Thickened ribs Coarse hair Asymmetric septal hypertrophy Motor deterioration Recurrent upper respiratory tract infections Dysphagia Blepharophimosis Tarsal synostosis Abnormality of nail color Abnormality of the hip bone Vertebral segmentation defect Long fingers Restrictive ventilatory defect Macular dystrophy Decreased muscle mass Bilateral talipes equinovarus Mask-like facies Congenital contracture Bilateral ptosis Abnormal electroretinogram Bilateral single transverse palmar creases Arthrogryposis multiplex congenita Joint contracture of the hand Abnormal lung morphology Lumbar hyperlordosis Wide intermamillary distance Webbed neck Abnormality of skin pigmentation Arachnodactyly Abnormality of the foot Abnormality of eye movement Hypermetropia Ophthalmoplegia Spontaneous abortion Macular degeneration Ventricular hypertrophy Anteverted nares Hypospadias Recurrent infections Dilatation Immunodeficiency Long philtrum Hypertonia Cerebellar atrophy Myopathy Joint dislocation Respiratory distress Ventriculomegaly Cerebellar hypoplasia Optic atrophy Hyperreflexia Feeding difficulties Spasticity Muscular hypotonia Muscle weakness Epiphyseal dysplasia Elbow dislocation Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Neoplasm of the oral cavity Abnormality of epiphysis morphology Agenesis of corpus callosum Gastrointestinal carcinoma Cleft upper lip Hypotelorism Narrow forehead Decreased antibody level in blood Delayed myelination Loss of speech Neutropenia High, narrow palate Thick vermilion border Wide nose Pulmonary hypoplasia Polymicrogyria Congenital cataract Recurrent respiratory infections Dilated cardiomyopathy Severe global developmental delay Hip dysplasia Feeding difficulties in infancy Cleft lip Muscular hypotonia of the trunk Hypertrophic cardiomyopathy EEG abnormality Acidosis Respiratory failure Cerebral cortical atrophy Premature arteriosclerosis Neoplasm of the small intestine Atherosclerosis Squamous cell carcinoma Ovarian neoplasm Secondary amenorrhea Myeloid leukemia Scleroderma Telangiectasia of the skin Aplasia/Hypoplasia of the skin Lipoatrophy Decreased fertility Polyphagia Premature graying of hair High pitched voice Polyuria Congenital nystagmus Rocker bottom foot Abnormality of the thorax Polydipsia Myelodysplasia Abnormality of the voice Lipodystrophy Dermal atrophy Sarcoma Laryngomalacia Breast carcinoma Melanoma Prematurely aged appearance Premature loss of teeth Subcutaneous calcification Abnormality of the testis Poliosis Abnormal hair whorl Soft tissue sarcoma Chorioretinitis Cutaneous melanoma Narrow nasal ridge Arteriosclerosis Limited elbow extension Thyroid carcinoma White forelock Slender build Pili torti Alopecia of scalp Chondrocalcinosis Lack of skin elasticity Peripheral arterial stenosis Abnormality of the cerebral vasculature Osteosarcoma Renal neoplasm Meningioma Progeroid facial appearance Dislocated radial head Pulmonary artery stenosis Neoplasm of the lung Hypoplastic inferior ilia


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