Strabismus, and Facial asymmetry

Diseases related with Strabismus and Facial asymmetry

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


Top matches:

Low match ISOLATED PLAGIOCEPHALY


Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.

ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis|synostotic plagiocephaly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Strabismus
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED PLAGIOCEPHALY

Low match SPINOCEREBELLAR ATAXIA TYPE 34


Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

Low match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

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Other less relevant matches:

Low match STANKIEWICZ-ISIDOR SYNDROME; STISS


Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about STANKIEWICZ-ISIDOR SYNDROME; STISS

Low match PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

Low match GABRIELE-DE VRIES SYNDROME


Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

Low match HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2


Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Low match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Low match LAMB-SHAFFER SYNDROME; LAMSHF


Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LAMB-SHAFFER SYNDROME; LAMSHF

Low match CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME


Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Strabismus and Facial asymmetry

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

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Seizures Nystagmus Feeding difficulties Hypertelorism Downslanted palpebral fissures Motor delay Ventriculomegaly Epicanthus Myopia Neonatal hypotonia High palate Tremor Delayed speech and language development Visual impairment Behavioral abnormality Posteriorly rotated ears Absent speech Frontal bossing Hypoplasia of the corpus callosum Hearing impairment Anxiety

Rare Symptoms - Less than 30% cases


Brachycephaly Reduced visual acuity Overlapping toe Abnormality of the skeletal system Long face Cognitive impairment Narrow forehead High forehead Bilateral ptosis CNS hypomyelination Open mouth Micrognathia Cryptorchidism Low-set ears Wide nasal bridge Esotropia Delayed myelination Unsteady gait Retrognathia Abnormal cardiac septum morphology Broad forehead Scoliosis Cerebral visual impairment Microcephaly Short nose Craniosynostosis Limb ataxia Macrocephaly Ataxia Dysarthria Cerebellar atrophy Intellectual disability, mild Constipation Bulbous nose Gait ataxia Neurological speech impairment Coloboma Abnormality of movement Peripheral axonal neuropathy Muscular hypotonia Cerebellar hypoplasia Low anterior hairline Abnormality of the cerebral white matter Pointed chin Long fingers Growth delay Frontal cortical atrophy Poor head control Brisk reflexes Anteverted nares Slurred speech Depressed nasal bridge Cataract Abnormal cerebellum morphology Aniridia Severe hydrocephalus Macular hypoplasia Colpocephaly Abnormal cortical gyration Communicating hydrocephalus Clinodactyly Postural tremor Kyphoscoliosis Periventricular gray matter heterotopia Cerebral cortical atrophy Cerebral atrophy Scanning speech Speech apraxia Hypopigmentation of the skin Titubation High, narrow palate Hearing abnormality Abnormality of the pulmonary artery Broad distal phalanx of finger Pulmonic stenosis Craniofacial asymmetry Hypoplasia of the fovea Synophrys Congenital cataract Corneal opacity Apraxia Muscular hypotonia of the trunk Involuntary movements Mandibular prognathia Hypoplasia of the iris Truncal titubation Mask-like facies Optic nerve hypoplasia Pes planus Spastic tetraplegia Hemiplegia/hemiparesis Decreased nerve conduction velocity Paraparesis Sensorimotor neuropathy Abnormality of retinal pigmentation Psychosis Tetraplegia 2-3 toe syndactyly Hypoplasia of the maxilla Polyneuropathy Tapered finger Sensory neuropathy Inability to walk Limb muscle weakness Decreased motor nerve conduction velocity Infantile spasms Developmental regression Motor polyneuropathy Decreased sensory nerve conduction velocity Limb tremor Axonal degeneration/regeneration Diffuse white matter abnormalities EMG: chronic denervation signs Progressive peripheral neuropathy Restrictive deficit on pulmonary function testing Partial agenesis of the corpus callosum Aqueductal stenosis Demyelinating peripheral neuropathy Facial diplegia Increased CSF protein Turricephaly Onion bulb formation Respiratory tract infection Facial palsy Thin upper lip vermilion Stereotypy Small face Maternal diabetes Disproportionate tall stature Relative macrocephaly Narrow palate Exotropia Dental crowding Hyperplasia of the maxilla Clumsiness Mitral regurgitation Lumbar hyperlordosis Renal agenesis Pectus carinatum Hyperlordosis Long hallux Vertebral clefting EEG abnormality Flexion contracture Macrotia Agenesis of corpus callosum Areflexia Intellectual disability, severe Skeletal muscle atrophy Peripheral neuropathy Muscle weakness Thoracic kyphoscoliosis Severe expressive language delay Laryngotracheomalacia Hypoplastic helices Mild myopia Ureteral stenosis Expressive language delay Cortical gyral simplification Joint laxity Lissencephaly Thin vermilion border Short stature Brachydactyly Short neck Blindness Long philtrum Syndactyly Delayed skeletal maturation Proptosis Postnatal growth retardation Hypermetropia Micromelia Thick eyebrow Supranuclear gaze palsy Small hand Single transverse palmar crease Progressive visual loss Fine hair Sandal gap Cutis laxa Dyschromatopsia Achromatopsia Prominent glabella Blue cone monochromacy Hyposegmentation of neutrophil nuclei Nonprogressive visual loss Supranuclear ophthalmoplegia Impaired smooth pursuit Patent ductus arteriosus Papule Midface retrusion Abnormality of eye movement Plagiocephaly Visual field defect Spasticity Hyperreflexia Gait disturbance Hyporeflexia Babinski sign Hyperkeratosis Erythema Abnormal pyramidal sign Ophthalmoplegia Abnormality of the musculature Dry skin Progressive cerebellar ataxia Abnormality of the skin Hypotension Intention tremor Hypohidrosis Fasciculations Macular degeneration Urticaria Dysdiadochokinesis Macule Orthostatic hypotension Hypospadias Micropenis Microretrognathia Hernia Abnormality of the pinna Gliosis Waddling gait Thick lower lip vermilion Sparse eyebrow Esophageal atresia Periorbital fullness Lacrimal duct stenosis Mild intrauterine growth retardation Sensorineural hearing impairment Hydrocephalus Atrial septal defect Polyhydramnios Malar flattening Cleft lip Joint hypermobility Hepatic failure Pulmonary hypoplasia Iris coloboma Intestinal malrotation Dandy-Walker malformation Microdontia Congenital diaphragmatic hernia Cholestasis Heterotopia Wide anterior fontanel Hypothyroidism Dystonia Autism Prominent forehead Abnormality of the kidney Prominent nose Short thumb Horizontal nystagmus Absent thumb Shawl scrotum Truncus arteriosus Pineal cyst Respiratory insufficiency Edema Encephalopathy Myoclonus Upslanted palpebral fissure Abnormality of the dentition Telecanthus Apnea Dolichocephaly Epileptic encephalopathy Broad-based gait Cafe-au-lait spot Deep philtrum Precocious puberty Myopathic facies Neurodevelopmental delay Facial hypotonia Intrauterine growth retardation Abnormal anterior horn cell morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Broad forehead, related diseases and genetic alterations Hydrocephalus and Iris coloboma, related diseases and genetic alterations Myopathy and Urinary incontinence, related diseases and genetic alterations Immunodeficiency and Hypopigmentation of the skin, related diseases and genetic alterations

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