Rod-cone dystrophy, and Anteverted nares

Diseases related with Rod-cone dystrophy and Anteverted nares

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


Top matches:

High match JOUBERT SYNDROME 35; JBTS35


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

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 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

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Other less relevant matches:

High match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES 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

High match INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

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 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

Medium 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

Medium 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

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Anteverted nares

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Micrognathia Epicanthus Sensorineural hearing impairment Nystagmus Visual impairment Optic atrophy Muscular hypotonia Frontal bossing Brachydactyly Blindness Posteriorly rotated ears Telecanthus Renal cyst Seizures Nyctalopia Wide nasal bridge Rhizomelia Acidosis High forehead Microcephaly Postnatal growth retardation Downslanted palpebral fissures Pulmonary hypoplasia Short neck Midface retrusion Hernia Cleft palate Hepatomegaly Delayed myelination Patent ductus arteriosus Craniosynostosis Failure to thrive Cataract Hypospadias Agenesis of corpus callosum High, narrow palate Growth delay Ventricular septal defect Upslanted palpebral fissure Strabismus Cerebellar vermis hypoplasia Delayed speech and language development Hydronephrosis Thin upper lip vermilion

Rare Symptoms - Less than 30% cases


Cerebral cortical atrophy Motor delay Hypertension Cryptorchidism Aplasia/Hypoplasia of the corpus callosum Ventriculomegaly Abnormal electroretinogram Open mouth Prominent forehead Decreased liver function Iris coloboma Abnormality of the skeletal system Coloboma Gastroesophageal reflux Cleft lip Heterotopia Constipation Myopia Cerebellar atrophy Abnormality of cardiovascular system morphology Behavioral abnormality Intellectual disability, mild Short nose Very long chain fatty acid accumulation Broad nasal tip Hyperoxaluria Recurrent urinary tract infections Metopic synostosis Progressive visual loss Spasticity Cardiomyopathy Jaundice Respiratory tract infection Congenital cataract Hepatic fibrosis Left ventricular hypertrophy Cholestasis Narrow forehead Large fontanelles Stage 5 chronic kidney disease Long philtrum Smooth philtrum Macrocephaly Dolichocephaly Multicystic kidney dysplasia Abnormality of the pinna Leukodystrophy Elevated hepatic transaminase Malar flattening Inguinal hernia Abnormal heart morphology Cone/cone-rod dystrophy Epiphyseal stippling Renal insufficiency Joint laxity Cleft upper lip Ptosis Feeding difficulties in infancy EEG abnormality Rocker bottom foot Short ribs Limb undergrowth Pigmentary retinopathy Astigmatism Bell-shaped thorax Glaucoma Skeletal dysplasia Pneumonia Delayed skeletal maturation Visual loss Respiratory distress Sparse hair Bronchitis Retinal degeneration Aspiration Polymicrogyria Ataxia Dilated cardiomyopathy Optic neuropathy Hypopigmentation of hair Rectourethral fistula Absent pulmonary artery Muscle weakness Decreased antibody level in blood Abnormality of immune system physiology IgG deficiency Renal tubular acidosis Peripheral neuropathy Centrally nucleated skeletal muscle fibers Sepsis Hypotelorism Triangular face Severe sensorineural hearing impairment Aspiration pneumonia Posterior pharyngeal cleft Hypoplasia of the pons Aplasia/Hypoplasia of the cerebellar vermis Abnormal cortical gyration Hoarse cry Chronic mucocutaneous candidiasis Hypoplasia of the epiglottis Short lingual frenulum Laryngeal cleft Macular atrophy Fair hair Renal tubular dysfunction Ocular albinism Vascular ring Depressed nasal tip Severe failure to thrive Rectal atresia Hyperreflexia Hypopigmentation of the skin Myopathy Muscular hypotonia of the trunk Respiratory failure Infantile muscular hypotonia Coarse facial features Wide nose Leukopenia Hypertrophic cardiomyopathy Recurrent bacterial infections Recurrent respiratory infections Increased body weight Lymphopenia Hypoplasia of the thymus Joint stiffness Severe global developmental delay Progressive microcephaly Decreased body weight Cerebellar hypoplasia Abnormality of retinal pigmentation Immunodeficiency Congestive heart failure Neutropenia Neurodevelopmental delay Hypertonia Combined immunodeficiency Albinism Sleep disturbance Recurrent infections Ventricular hypertrophy Congenital sensorineural hearing impairment Dilatation Poor suck Progressive neurologic deterioration Thick vermilion border Adducted thumb Recurrent viral infections Penile hypospadias Cellular immunodeficiency External ear malformation Ulnar deviation of the hand Profound global developmental delay Abnormality of the mitochondrion Labial hypoplasia Redundant neck skin Abnormality of the helix Breech presentation Thickened nuchal skin fold Adrenal hypoplasia Posterior embryotoxon Primary adrenal insufficiency Hepatic cysts Underdeveloped supraorbital ridges Protruding tongue Prolonged neonatal jaundice Congenital glaucoma Abnormality of coagulation Abnormality of neuronal migration Metatarsus adductus Flat occiput Clitoral hypertrophy Cubitus valgus Tapetoretinal degeneration Abnormality of the tongue Polycystic kidney dysplasia Sudanophilic leukodystrophy Congenital blindness Horseshoe kidney Small nail Underdeveloped nasal alae Short metacarpal Short distal phalanx of finger Intellectual disability, moderate Macrotia Hypoplastic olfactory lobes Intrahepatic biliary dysgenesis Elevated long chain fatty acids Brachyturricephaly Subependymal cysts Brushfield spots Renal cortical microcysts Albuminuria Abnormal chorioretinal morphology Renal cortical cysts Ulnar deviation of the hand or of fingers of the hand Widely patent fontanelles and sutures Glutaric aciduria Intestinal lymphangiectasia Pyloric stenosis Reduced tendon reflexes Hypopigmentation of the fundus Abnormal macular morphology Severe T-cell immunodeficiency Absent gallbladder Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Muscle flaccidity Acute bronchitis 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 Pontocerebellar atrophy Granulocytopenia Abnormal posturing Recurrent fungal infections White matter neuronal heterotopia Cognitive impairment Severe muscular hypotonia Round face Intellectual disability, progressive Opacification of the corneal stroma Nephrocalcinosis Aminoaciduria Wide anterior fontanel Hypoplasia of dental enamel Pachygyria Optic disc pallor Aciduria Premature birth Macroglossia Talipes equinovarus Single transverse palmar crease Flat face Hepatic failure Malabsorption Corneal opacity Hyporeflexia Areflexia Encephalopathy Intellectual disability, severe Respiratory insufficiency Cranial asymmetry Coarctation of aorta Unilateral cleft lip Pointed chin Abnormality of the dentition Molar tooth sign on MRI Hypoglycemic seizures Facial hypotonia Abnormality of visual evoked potentials Self-injurious behavior Focal impaired awareness seizure Abnormality of the outer ear Cerebral visual impairment Syndactyly Congenital diaphragmatic hernia Bilateral sensorineural hearing impairment Focal-onset seizure Downturned corners of mouth Hypermetropia Short philtrum Mandibular prognathia Autism Narrow mouth Splenomegaly Pectus excavatum Brachycephaly Microdontia Widely spaced teeth Cutis laxa Plagiocephaly Sparse eyelashes Narrow palpebral fissure Hyperbilirubinemia Hydrops fetalis Postaxial hand polydactyly Ectodermal dysplasia Clinodactyly Full cheeks Everted lower lip vermilion Narrow chest Blepharophimosis Proteinuria Retrognathia Polyhydramnios Oculomotor apraxia Polydactyly Hyperactivity Cerebral atrophy Patent foramen ovale Hypothyroidism Abnormality of the metaphysis Retinal dystrophy Delayed puberty Platyspondyly Photophobia Proptosis Reduced visual acuity Kyphosis Deeply set eye Diabetes mellitus Low-set, posteriorly rotated ears Scoliosis Broad distal phalanx of finger Wide nasal base Broad columella Congenital hypothyroidism Corneal dystrophy Progressive hearing impairment Broad thumb Bowing of the long bones Recurrent pneumonia Hypoplasia of the corpus callosum Spondylometaphyseal dysplasia Alopecia Irregular iliac crest Enchondroma Proximal femoral metaphyseal irregularity Cupped ribs Aplasia/hypoplasia of the extremities Narrow greater sacrosciatic notches Prominent sternum Anterior rib cupping Thoracic dysplasia Coxa vara Ovoid vertebral bodies Thoracic kyphosis Metaphyseal dysplasia Thoracic hypoplasia Short femoral neck Mild short stature Metaphyseal irregularity Neonatal respiratory distress Epiphyseal dysplasia Chronic kidney disease Preaxial polydactyly Inspiratory stridor Aortic valve stenosis Oral-pharyngeal dysphagia Stridor Abnormality of the urinary system Recurrent upper respiratory tract infections Laryngomalacia Anosmia Cardiac arrest Hoarse voice Pulmonary arterial hypertension Tracheoesophageal fistula Short palpebral fissure Dandy-Walker malformation Intestinal malrotation Vesicoureteral reflux Bifid uvula Oral cleft Anal atresia Prominent nasal bridge Cough Bifid scrotum Prominent occiput Abnormality of the kidney Abnormality of the respiratory system Ankyloglossia Dilated fourth ventricle Cavum septum pellucidum Sagittal craniosynostosis Bicornuate uterus Concave nasal ridge Widow's peak Enlarged cisterna magna Bilateral cleft lip and palate Weak cry Diastasis recti Megalencephaly Bilateral cleft lip Hiatus hernia Tracheomalacia Prominent metopic ridge Anal stenosis Abnormality of the ureter Limb dystonia Abnormal cardiac septum morphology Conductive hearing impairment Sparse eyebrow Bile duct proliferation Osteoporosis Arrhythmia Absent speech Skeletal muscle atrophy Apraxia Fused teeth Horizontal ribs Portal fibrosis Cloverleaf skull Facial palsy Broad philtrum Cholangitis Biliary cirrhosis High anterior hairline Polysplenia Cutaneous finger syndactyly Cystic hygroma Nephronophthisis Mesomelia Neonatal hypotonia Retinopathy Umbilical hernia Severe hearing impairment Micropenis Scarring Dystonia Atrial septal defect Highly arched eyebrow Dysphagia Elevated levels of phytanic acid Progressive spinal muscular atrophy Hypocholesterolemia Constriction of peripheral visual field Ichthyosis Impulsivity Spinal muscular atrophy Progressive muscle weakness Abnormality of epiphysis morphology Nephrolithiasis Abnormality of the face Convex nasal ridge Esotropia Cirrhosis Metaphyseal chondrodysplasia



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