Optic atrophy, and Inguinal hernia

Diseases related with Optic atrophy and Inguinal hernia

In the following list you will find some of the most common rare diseases related to Optic atrophy and Inguinal hernia that can help you solving undiagnosed cases.


Top matches:

High match ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME


Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME Is also known as distal arthrogryposis with ophthalmoplegia|distal arthrogryposis type 5|oculomelic amyoplasia|distal arthrogryposis type iib

Related symptoms:

  • Ptosis
  • Visual impairment
  • Optic atrophy
  • Pectus excavatum
  • Inguinal hernia


SOURCES: ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME

High match CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME


Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

High match ANGELMAN SYNDROME; AS


Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

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Other less relevant matches:

High match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

High match MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME


Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

High match ACROCALLOSAL SYNDROME; ACLS


The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

High match CRI-DU-CHAT SYNDROME


Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

CRI-DU-CHAT SYNDROME Is also known as cat cry syndrome|chromosome 5p deletion syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRI-DU-CHAT SYNDROME

High match GM1-GANGLIOSIDOSIS, TYPE I


GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

High match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

High match 3C SYNDROME


Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

Top 5 symptoms//phenotypes associated to Optic atrophy and Inguinal hernia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Optic atrophy and Inguinal hernia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Prominent forehead Nystagmus Hypospadias Downslanted palpebral fissures Macrocephaly Hearing impairment Frontal bossing Muscular hypotonia Short neck Cryptorchidism Depressed nasal bridge Growth delay Abnormality of the skeletal system Postnatal growth retardation Ataxia Feeding difficulties Kyphosis Abnormality of cardiovascular system morphology Gastroesophageal reflux Feeding difficulties in infancy Wide nasal bridge Long philtrum Hyperactivity Intellectual disability, severe Coarse facial features Preauricular skin tag Patent ductus arteriosus Sensorineural hearing impairment Abnormal cardiac septum morphology Failure to thrive Short philtrum Pulmonic stenosis Cleft palate Behavioral abnormality Spasticity Joint stiffness Epicanthus Abnormal heart morphology Hepatosplenomegaly Syndactyly Mandibular prognathia Macrotia Ascites Bifid uvula Posteriorly rotated ears Dandy-Walker malformation Ptosis Delayed speech and language development Clinodactyly Severe global developmental delay Hernia Short attention span Tapered finger Finger syndactyly Broad forehead Wide mouth Flexion contracture Cerebral cortical atrophy Ventriculomegaly Macroglossia Cerebellar hypoplasia High palate Motor delay

Rare Symptoms - Less than 30% cases


Abnormality of the pinna Anal atresia Developmental regression Toe syndactyly Skeletal dysplasia Aggressive behavior Edema Umbilical hernia Protruding tongue Hepatomegaly Coloboma Intellectual disability, moderate Anteverted nares Pericardial effusion Visual impairment Unilateral renal agenesis Downturned corners of mouth Webbed neck Smooth philtrum Camptodactyly Hydronephrosis Renal agenesis Thrombocytopenia Lymphedema Immunodeficiency Hypoplasia of the corpus callosum Atrial septal defect Proximal placement of thumb High forehead Cyanosis Sparse hair Communicating hydrocephalus Beaking of vertebral bodies Low posterior hairline Wide intermamillary distance Aortic valve stenosis Postural instability Hypertension Mitral regurgitation Brachydactyly Ventricular septal defect Short nose Esotropia Cardiomyopathy Recurrent respiratory infections Intellectual disability, progressive Neurological speech impairment Diastasis recti Anxiety Autism Brachycephaly Absent speech Cerebellar atrophy Myopia Hyperreflexia Splenomegaly Micrognathia Abnormality of the hip bone Overlapping toe Prominent supraorbital ridges Generalized hirsutism Abnormality of movement Intrauterine growth retardation Respiratory distress Poor suck Horseshoe kidney Synophrys Cleft lip Neonatal hypotonia Agenesis of corpus callosum Low-set, posteriorly rotated ears Abnormality of the kidney Oral cleft Triangular face Deeply set eye Pectus excavatum Hypermetropia Dental malocclusion Astigmatism Highly arched eyebrow Abnormality of the face Microretrognathia Exotropia Aspiration Widely spaced teeth Prominent occiput Falls Short metatarsal Hyperlordosis Metatarsus adductus Abnormal heart valve morphology Generalized dystonia Dysostosis multiplex Abnormality of the retinal vasculature Aplasia/Hypoplasia of the abdominal wall musculature Hypertrophic cardiomyopathy Skeletal muscle atrophy Arthralgia Tracheoesophageal fistula Tremor Dementia Stereotypy Abnormal diaphysis morphology Dystonia Congestive heart failure Camptodactyly of finger Short metacarpal Thick lower lip vermilion Severe short stature Blindness Psychomotor deterioration Weight loss Narrow face Hallucinations High-pitched cry Muscle weakness Corneal opacity Functional respiratory abnormality Stenosis of the external auditory canal High axial triradius Echolalia Oppositional defiant disorder Facial grimacing Auditory hallucinations Neurodegeneration Recurrent infections in infancy and early childhood Anterior open-bite malocclusion Abnormality of bone mineral density Cat cry Hyperacusis Conspicuously happy disposition Dilated cardiomyopathy Overfriendliness Self-mutilation Bundle branch block Hypertrichosis Encephalitis Abnormality of the urinary system Gingival overgrowth Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Abdominal distention Cardiomegaly High pitched voice Premature graying of hair Abnormality of the skin Esophageal atresia Broad nasal tip Delusions Bilateral single transverse palmar creases Exaggerated startle response Decreased antibody level in blood Hand polydactyly Abnormality of the hand Narrow palate Wormian bones Hemivertebrae Large fontanelles Cerebellar vermis hypoplasia Hypoplasia of penis Limb undergrowth Tetralogy of Fallot Growth hormone deficiency Intestinal malrotation Aplasia/Hypoplasia of the cerebellum High, narrow palate Iris coloboma Prominent nasal bridge Glaucoma Alopecia Dilatation Hydrocephalus Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Chorioretinal coloboma Abnormality of neuronal migration Hypoplasia of olfactory tract Hypoplastic fingernail Cerebellar malformation Humoral immunodeficiency Facial hemangioma Contractures of the large joints Posterior fossa cyst Abnormality of the fontanelles or cranial sutures Abnormal tricuspid valve morphology Lethal skeletal dysplasia Complete atrioventricular canal defect Aplasia/Hypoplasia of the nipples Abnormal mitral valve morphology Mitral stenosis Hypoplastic left heart Enlarged cisterna magna Ectopic anus Single umbilical artery Missing ribs Pierre-Robin sequence Double outlet right ventricle Adrenal hypoplasia Posterior embryotoxon Narrow nasal bridge Atrioventricular canal defect Congenital glaucoma Mesomelia Reduced factor XII activity Reduced factor IX activity Vacuolated lymphocytes Polyhydramnios Epistaxis Hip dysplasia Lymphoma Abnormal bleeding Thick vermilion border Bruising susceptibility Joint hypermobility Abnormality of the foot Leukemia Pectus carinatum Joint laxity Myopathy Hyperpigmentation of the skin Gait disturbance Cognitive impairment Abnormality of ganglioside metabolism Decreased beta-galactosidase activity Cerebral degeneration Thickened ribs Abnormality of the scrotum Angiokeratoma corporis diffusum Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Fine hair Cafe-au-lait spot Abnormality of the mediastinum Abnormal eyebrow morphology Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Hydrocele testis Facial hypotonia Neurodevelopmental delay Hydrops fetalis Decreased muscle mass Overfolded helix Cubitus valgus Abnormality of the thorax Pleural effusion Bilateral ptosis Failure to thrive in infancy Cholelithiasis Deep philtrum Bicuspid aortic valve Torticollis Vasculitis Round face Cerebral atrophy Recurrent fractures Blue irides Tongue thrusting Large foramen magnum Sleep-wake cycle disturbance Inappropriate laughter Limb tremor Happy demeanor Moderate global developmental delay Profound global developmental delay Fair hair Progressive gait ataxia Anisometropia Epileptic spasms Overweight Drowsiness Atonic seizures Keratoconus Polyphagia Albinism Flat occiput Self-injurious behavior Paroxysmal bursts of laughter Proptosis Hyperkinesis Increased intracranial pressure Thoracolumbar kyphosis Increased mean corpuscular volume Edema of the lower limbs Abnormality of the skull Insomnia Protuberant abdomen Distal arthrogryposis Heart murmur Recurrent upper respiratory tract infections Tachypnea Dyspnea Progressive hearing impairment Thickened skin Recurrent otitis media Pulmonary arterial hypertension Mitral valve prolapse Abnormality of the cardiovascular system Limitation of joint mobility Tachycardia Kyphoscoliosis Incoordination Drooling Hypochromic anemia Tetraplegia Abnormal hair pattern Abnormally large globe Infantile spasms Renal hypoplasia/aplasia Lissencephaly Low anterior hairline Renal dysplasia Abnormality of the genital system Spastic tetraplegia Hirsutism Broad alveolar ridges Protruding ear Absent palmar crease Congenital finger flexion contractures Dimple chin Deviation of finger Bilateral talipes equinovarus Abnormal electroretinogram Arachnodactyly Ophthalmoplegia Limb joint contracture Hyperconvex nail Cerebral palsy Hypoplasia of the maxilla Postnatal microcephaly Clumsiness Broad-based gait Status epilepticus Intellectual disability, profound Generalized-onset seizure Overgrowth Focal-onset seizure Abnormal cerebellum morphology Hypopigmentation of the skin Fever Sleep disturbance Infertility Autistic behavior EEG abnormality Gait ataxia Constipation Encephalopathy Obesity Vomiting Inspiratory stridor Hyperplasia of the maxilla Single transverse palmar crease Finger clinodactyly Anencephaly Abnormality of digit Partial agenesis of the corpus callosum External genital hypoplasia Molar tooth sign on MRI Diabetes insipidus Preaxial hand polydactyly Preaxial polydactyly Aplasia/Hypoplasia of the corpus callosum Spontaneous abortion Postaxial foot polydactyly Wide anterior fontanel Omphalocele Open mouth Postaxial hand polydactyly Retinal dystrophy Postaxial polydactyly Thin vermilion border Cleft upper lip Apnea Arachnoid cyst Preaxial foot polydactyly Hypothyroidism Cataract Small hand Long face Joint hyperflexibility Facial asymmetry Small for gestational age Difficulty walking Pes planus Hypertonia Talipes equinovarus Pulmonary valve defects Rectovaginal fistula Intracranial cystic lesion Bifid distal phalanx of the thumb Duplication of thumb phalanx Duplication of phalanx of hallux Cerebral hypoplasia Abnormal pulmonary valve morphology Triangular mouth Hypopigmentation of the fundus Hypoplasia of teeth Retrognathia Micropenis Abnormality of the optic disc Focal seizures, afebril Bulbous nose Thin upper lip vermilion Reduced visual acuity Upslanted palpebral fissure Midface retrusion Recurrent infections Abnormality of nasopharyngeal adenoids Localized skin lesion Dysplastic aortic valve Intervertebral space narrowing Nevus Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Short digit Anisopoikilocytosis Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Morphological abnormality of the central nervous system Obstructive lung disease J-shaped sella turcica Retinal detachment Narrow forehead Polydactyly Protein-losing enteropathy Clinodactyly of the 5th finger Abnormality of the dentition Eversion of lateral third of lower eyelids Flared nostrils Intestinal lymphangiectasia Macrothrombocytopenia Increased mean platelet volume Total anomalous pulmonary venous return Anomalous pulmonary venous return Mild microcephaly Bilateral sensorineural hearing impairment Retinal dysplasia Congenital nystagmus Abnormality of the periventricular white matter Abnormality of the sternum Sparse eyebrow Hypoalbuminemia Tented upper lip vermilion Abnormal intestine morphology Progressive microcephaly Primum atrial septal defect



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