Strabismus, and Hernia

Diseases related with Strabismus and Hernia

In the following list you will find some of the most common rare diseases related to Strabismus and Hernia that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Seizures
  • Spasticity
  • Motor delay
  • Hyperreflexia
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 2; HKPX2

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

PROGEROID SYNDROME, PETTY TYPE Is also known as petty syndrome|petty-laxova-wiedemann syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Strabismus
  • Epicanthus
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PROGEROID SYNDROME, PETTY TYPE

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about FREEMAN-SHELDON SYNDROME

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 7; JBTS7

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease

Related symptoms:

  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cryptorchidism
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about STEINERT MYOTONIC DYSTROPHY

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Some patients with ASGD1 have been reported with the Peters anomaly subtype.In its simplist form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).

ANTERIOR SEGMENT DYSGENESIS 1; ASGD1 Is also known as anterior segment mesenchymal dysgenesis|asmd|anterior segment ocular dysgenesis|asod

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANTERIOR SEGMENT DYSGENESIS 1; ASGD1

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 6; HPS6

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Top 5 symptoms//phenotypes associated to Strabismus and Hernia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Strabismus and Hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Seizures Inguinal hernia Scoliosis

Rare Symptoms - Less than 30% cases

Photophobia Abnormality of the dentition Macular hypoplasia Cataract Muscular hypotonia Hearing impairment Growth delay Microcornea Wide nasal bridge Talipes equinovarus Deeply set eye Intellectual disability, severe Hypertonia Hyperreflexia Abnormal facial shape Feeding difficulties Atrial septal defect Motor delay Camptodactyly Generalized hypotonia Hydrocephalus Downslanted palpebral fissures Sensorineural hearing impairment Short stature Spasticity Abnormality of the hair Mandibular prognathia Epicanthus Astigmatism Umbilical hernia Failure to thrive Epistaxis Abnormal lung morphology Recurrent urinary tract infections Exotropia Posterior embryotoxon Recurrent upper respiratory tract infections Corneal neovascularization Albinism Bruising susceptibility Aniridia Prolonged bleeding time Interstitial pulmonary abnormality Colitis Iron deficiency anemia Congenital nystagmus Hypoplasia of the fovea Ocular albinism Generalized hypopigmentation Rotary nystagmus Keratoconjunctivitis sicca Migraine Headache Anal atresia Ectopia lentis Peters anomaly Abnormality of the hypothalamus-pituitary axis Abnormality of the optic nerve Anterior synechiae of the anterior chamber Optic nerve coloboma Ectopia pupillae Posterior polar cataract Corneal erosion Keratitis Sclerocornea Aplasia/Hypoplasia of the iris Increased intraocular pressure Reduced visual acuity Hypoplasia of the iris Keratoconus Iris hypopigmentation Rieger anomaly Polycoria Abnormality of the sense of smell Axenfeld anomaly Aphakia Macular hypopigmentation Anemia Anterior segment developmental abnormality Partial albinism Gait ataxia Endometriosis Primary amenorrhea Microcephaly High palate Depressed nasal bridge Microphthalmia Telecanthus Blepharophimosis Hypermetropia Synophrys Infertility Amenorrhea Narrow forehead Congenital diaphragmatic hernia Narrow palpebral fissure High-frequency hearing impairment Holoprosencephaly Premature ovarian insufficiency Cupped ear Hypoplasia of the uterus Short finger Increased circulating gonadotropin level Congenital ptosis Epicanthus inversus Unilateral ptosis Female infertility Premature atrial contractions Abnormality of the breast Abnormality of the basal ganglia Basal ganglia calcification Absent foveal reflex Difficulty walking Abnormal platelet granules Impaired ADP-induced platelet aggregation Flexion contracture Macrocephaly Ventriculomegaly Cerebellar hypoplasia Dementia Prominent forehead Cerebral cortical atrophy Aplasia/Hypoplasia of the corpus callosum High forehead Coarse facial features Aggressive behavior Aplasia/Hypoplasia of the cerebellum Protruding ear Wide mouth Long face Thick vermilion border Neurodegeneration Prominent nose Dandy-Walker malformation Cerebral calcification Choreoathetosis Narrow face Pointed chin Self-injurious behavior Optic nerve hypoplasia Intellectual disability, progressive Opacification of the corneal stroma Depressed nasal ridge Long eyelashes in irregular rows Hypertelorism Long philtrum Narrow mouth Polyhydramnios Feeding difficulties in infancy Joint stiffness Camptodactyly of finger Neurological speech impairment Underdeveloped nasal alae Oligohydramnios Nasal speech Decreased skull ossification Ulnar deviation of finger Malignant hyperthermia Dimple chin Prenatal movement abnormality Absent palmar crease Hypoplasia of the corpus callosum Hypospadias Prominent nasal bridge Dolichocephaly Smooth philtrum Thin vermilion border Shagreen patch Prematurely aged appearance Supernumerary nipple Broad forehead Myoclonus Hyperactivity Gastroesophageal reflux Esotropia Meningitis Hiatus hernia Exaggerated startle response Glabellar reflex Intrauterine growth retardation Low-set, posteriorly rotated ears Sparse hair Thick eyebrow Lipoatrophy Short distal phalanx of finger Everted lower lip vermilion Wide anterior fontanel Abnormality of the nail Generalized hirsutism Abnormal dermatoglyphics Cutis laxa Reduced number of teeth Redundant skin Brittle hair Reduced subcutaneous adipose tissue Bulbous nose Prominent metopic ridge Abnormality of the genital system Non-midline cleft lip Brainstem dysplasia Neonatal breathing dysregulation Absence of renal corticomedullary differentiation Skeletal muscle atrophy Respiratory distress Abnormality of cardiovascular system morphology Facial palsy Hip dislocation EMG abnormality Myotonia Mask-like facies Abnormality of the endocrine system Meningoencephalocele Testicular atrophy Abnormality of the upper urinary tract Abnormal hair quantity First degree atrioventricular block Hernia of the abdominal wall Visual impairment Behavioral abnormality Glaucoma Corneal opacity Congenital cataract Short palpebral fissure Episodic tachypnea Abnormal corpus callosum morphology Low hanging columella Renal cyst Square face Ataxia Renal insufficiency Polydactyly Abnormality of the eye Apnea Abnormality of eye movement Genu valgum Stage 5 chronic kidney disease Postaxial polydactyly Retinal dystrophy Postaxial hand polydactyly Central apnea Apraxia Renal hypoplasia Encephalocele Horizontal nystagmus Oculomotor apraxia Mutism Hypoplasia of the brainstem Molar tooth sign on MRI Nephronophthisis Abnormal retinal morphology Occipital encephalocele Severe postnatal growth retardation Abnormal lacrimal duct morphology


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