Strabismus, and Overgrowth

Diseases related with Strabismus and Overgrowth

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


Top matches:

Medium match RAHMAN SYNDROME; RMNS


Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RAHMAN SYNDROME; RMNS

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

Medium match SOTOS SYNDROME 2; SOTOS2


SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 2; SOTOS2

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Other less relevant matches:

Medium match INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME


Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Medium match OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME


This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Medium match SCLEROSTEOSIS


Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Low match TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME


Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Low match NARP SYNDROME


Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|narp syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NARP SYNDROME

Low 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

Top 5 symptoms//phenotypes associated to Strabismus and Overgrowth

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

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Nystagmus Downslanted palpebral fissures Seizures Astigmatism Hypertelorism Inguinal hernia Mandibular prognathia Ventriculomegaly Macroglossia Anxiety Optic atrophy Deeply set eye Encephalopathy Ataxia Large for gestational age Sensorineural hearing impairment Gait ataxia Tall stature Absent speech Accelerated skeletal maturation

Rare Symptoms - Less than 30% cases


Behavioral abnormality Constriction of peripheral visual field Motor delay Visual impairment Autistic behavior Enlarged kidney Talipes Cerebral cortical atrophy Paralysis Hypermetropia Short stature Hypoglycemia Talipes equinovarus Abnormality of the face Renal cyst Frontal bossing Scoliosis Progressive gait ataxia Intellectual disability, mild Apnea Hyperkinesis Developmental regression Hyperactivity Visual loss Midface retrusion Intellectual disability, severe Headache Vomiting Ventricular septal defect Self-injurious behavior Flat occiput Epileptic spasms Myopia Rod-cone dystrophy Dyspnea Acidosis Proximal muscle weakness Hypertrophic cardiomyopathy Dementia Lactic acidosis Irritability Pallor Retinopathy Nyctalopia Ophthalmoplegia Paresthesia Sensory neuropathy Neurodegeneration Muscle cramps Generalized muscle weakness Chorea Pigmentary retinopathy Optic disc pallor Involuntary movements External ophthalmoplegia Babinski sign Dysphagia Arrhythmia Abnormality of the vasculature Tethered cord Abnormality of earlobe Visceromegaly Hemihypertrophy Diastasis recti Skin tags Neonatal hypoglycemia Anterior creases of earlobe Nevus flammeus Central hypotonia Syringomyelia Neuroblastoma Supernumerary nipple Psoriasiform dermatitis Abdominal wall defect Embryonal neoplasm Dystonia Dysarthria Myopathy Blindness Tongue thrusting Cardiomyopathy Respiratory distress Tremor Peripheral neuropathy Prune belly Paroxysmal bursts of laughter Spasticity Pain Muscle weakness Postauricular pit Auricular pit Poor suck Progressive external ophthalmoplegia Oral-pharyngeal dysphagia Abnormal cerebellum morphology Broad-based gait Profound global developmental delay Status epilepticus Intellectual disability, profound Generalized-onset seizure Focal-onset seizure Hypoplasia of the maxilla Postnatal microcephaly Hypopigmentation of the skin Moderate global developmental delay Sleep disturbance Falls Happy demeanor Infertility Clumsiness Short attention span Neurological speech impairment Polyphagia Fair hair Overweight Drowsiness Protruding tongue Atonic seizures Keratoconus Albinism Exotropia Incoordination Drooling Cerebral palsy Widely spaced teeth Intellectual disability, progressive Aspiration Abnormality of movement Wide mouth Sensory axonal neuropathy Asymmetric septal hypertrophy Abnormal basal ganglia MRI signal intensity Necrotizing encephalopathy Retinal arteriolar tortuosity Retinal pigment epithelial mottling Myoclonic spasms Breathing dysregulation Sleep-wake cycle disturbance Abnormal mitochondria in muscle tissue Heart block Blue irides Mitochondrial myopathy Large foramen magnum Hyperventilation Infantile spasms Inappropriate laughter Abnormal visual field test Feeding difficulties in infancy Kyphosis EEG abnormality Gastroesophageal reflux Autism Brachycephaly Constipation Obesity Limb tremor Corticospinal tract atrophy Cerebellar atrophy Fever Hyperreflexia Feeding difficulties Muscular hypotonia Microcephaly Abnormality of the outer ear Mitral valve prolapse Omphalocele Increased head circumference Advanced eruption of teeth Hydrocephalus Diarrhea Hip dislocation Poor speech Narrow forehead Open mouth Chronic diarrhea Congenital hip dislocation Torticollis Tented upper lip vermilion Pyloric stenosis Facial hypotonia Congenital muscular torticollis Long philtrum Cutis marmorata Neurofibromas Aplasia/Hypoplasia of the optic nerve Cranial asymmetry Abnormal pulmonary valve morphology Unilateral cryptorchidism Speech apraxia Abnormality of the sternum Optic nerve hypoplasia Abnormality of cardiovascular system morphology Thick lower lip vermilion Broad nasal tip Pulmonic stenosis Broad forehead Pectus carinatum Thin upper lip vermilion Long fingers Coxa valga Cognitive impairment Epileptic encephalopathy Hypertonia Abnormality of the dentition Kyphoscoliosis Neonatal hypotonia Telecanthus Camptodactyly Full cheeks Nevus Amblyopia Curved fingers Cerebral atrophy Clinodactyly Difficulty walking Inability to walk Hypsarrhythmia Narrow face Obtundation status Everted lower lip vermilion Long face High forehead Narrow mouth Pectus excavatum Delayed speech and language development Abnormal palmar dermatoglyphics Dental crowding Small earlobe Global brain atrophy Focal impaired awareness seizure Sandal gap Cerebral visual impairment Gingival overgrowth Ptosis Depressed nasal bridge Premature birth Bowing of the legs Abnormal heart morphology Macrotia Pes planus Protruding ear Coloboma Thick vermilion border Neutropenia Round face Intestinal malrotation Renal dysplasia Spina bifida Spina bifida occulta Nephroblastoma Large hands Long foot Abnormality of the skeletal system Splenomegaly Abnormality of the kidney Umbilical hernia Coarse facial features Polydactyly Patent ductus arteriosus Hypospadias Hepatomegaly Varicose veins Cryptorchidism Cleft palate Bifid ureter Renal malrotation Long hallux Retinal coloboma Hernia Epicanthus Wide nasal bridge Abnormal cranial nerve morphology Malar flattening Syndactyly Proptosis Facial palsy Finger syndactyly Dental malocclusion Esotropia Nail dysplasia Increased bone mineral density Cutaneous syndactyly Increased intracranial pressure Anosmia Abnormality of pelvic girdle bone morphology Hyperostosis Broad ribs Neoplasm Sclerotic vertebral endplates Cortically dense long tubular bones Facial palsy secondary to cranial hyperostosis Curved distal phalanges of the hand Sclerotic scapulae 2-3 finger syndactyly Trigeminal neuralgia Broad clavicles Abnormal cortical bone morphology Esodeviation Deviation of finger Diaphyseal thickening Fingernail dysplasia Craniofacial hyperostosis Abnormality of the nose Anisometropia



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