Abnormal facial shape, and Esotropia

Diseases related with Abnormal facial shape and Esotropia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Esotropia that can help you solving undiagnosed cases.


Top matches:

Low match INTELLECTUAL DISABILITY-STRABISMUS SYNDROME


Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

Low match SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME


Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

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Other less relevant matches:

Low match FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3


HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

Low match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

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 NEONATAL ADRENOLEUKODYSTROPHY


Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 10


Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10|clp1-related pontocerebellar hypoplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10

Low match MUCOLIPIDOSIS IV; ML4


Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Esotropia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Esotropia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Hyperreflexia Visual impairment High palate Hypertelorism Ventriculomegaly Delayed myelination Epicanthus Hypoplasia of the corpus callosum Absent speech Ptosis Telecanthus Prominent forehead Short stature Wide nasal bridge Optic atrophy Short nose Feeding difficulties Dysarthria Cerebral atrophy Growth delay Developmental regression Cerebellar atrophy

Rare Symptoms - Less than 30% cases


Broad-based gait Smooth philtrum Dystonia Retinal dystrophy Delayed gross motor development Progressive microcephaly Hearing impairment Underdeveloped nasal alae Esophoria Micrognathia Sensorineural hearing impairment Low-set ears Facial palsy Anteverted nares Depressed nasal bridge Hypermetropia Muscular hypotonia of the trunk Dolichocephaly Reduced visual acuity Dysphagia Abnormality of the cerebral white matter High forehead Dysmetria Upslanted palpebral fissure Neurodevelopmental delay Muscular hypotonia Encephalopathy Hypertonia Ataxia Cataract Adrenal insufficiency Irritability Primary adrenal insufficiency Thin upper lip vermilion Polar cataract Proptosis Elevated long chain fatty acids Cryptorchidism Peripheral neuropathy Cerebral cortical atrophy Dysplastic corpus callosum Wide anterior fontanel Abnormality of neuronal migration Low-set, posteriorly rotated ears Overlapping toe Myopathic facies Facial hypotonia Macrocephaly Frontal bossing Abnormality of metabolism/homeostasis EEG abnormality Abnormality of the liver Abnormal palate morphology Severe global developmental delay Abnormality of movement High, narrow palate Abnormality of retinal pigmentation Decreased liver function Brain atrophy Bilateral single transverse palmar creases Highly arched eyebrow Abnormality of the cerebral cortex Long eyelashes Developmental stagnation Amblyopia Aspiration Opacification of the corneal stroma Iron deficiency anemia Palpebral edema Severe vision loss Abnormality of abdomen morphology Increased serum ferritin Truncal titubation High myopia Motor deterioration Abnormality of mucopolysaccharide metabolism Oligosacchariduria Decreased light- and dark-adapted electroretinogram amplitude Titubation Esodeviation Progressive psychomotor deterioration Cerebral dysmyelination Hoarse cry Progressive neurologic deterioration Spastic tetraplegia Sensorimotor neuropathy Anemia Poor head control Cortical gyral simplification Progressive spasticity Long palpebral fissure Poor eye contact Abnormality of brainstem morphology Delayed fine motor development Visual fixation instability Myopia Retinal degeneration Babinski sign Skeletal dysplasia Coarse facial features Hepatosplenomegaly Photophobia Abnormality of the nervous system Precocious puberty Corneal opacity Abnormality of eye movement Bilateral ptosis Thick eyebrow Deep philtrum Paralysis Progressive spastic paraplegia Partial agenesis of the corpus callosum Limb hypertonia Dilation of lateral ventricles Abnormal CNS myelination Midface retrusion Posteriorly rotated ears Downturned corners of mouth Optic disc pallor High hypermetropia Facial diplegia Facial paralysis High-frequency hearing impairment Accommodative esotropia Scoliosis Intrauterine growth retardation Cerebellar hypoplasia Plagiocephaly Full cheeks Arachnodactyly Hyperactivity Generalized myoclonic seizures Choreoathetosis Loss of speech Corpus callosum atrophy Failure to thrive Cognitive impairment Behavioral abnormality Hypothyroidism Astigmatism Aggressive behavior Growth hormone deficiency Obesity Agenesis of corpus callosum Polyhydramnios Deeply set eye Spastic paraplegia Paraplegia Proteinuria Stage 5 chronic kidney disease CNS hypomyelination Neonatal hypotonia Short chin Brisk reflexes Thick upper lip vermilion Achilles tendon contracture Respiratory insufficiency Edema Myoclonus Anxiety Hypotelorism Apnea Broad forehead Facial asymmetry Unsteady gait Epileptic encephalopathy Open mouth Cafe-au-lait spot Cerebral visual impairment Narrow face Eczema Polymicrogyria Elevated serum creatine phosphokinase Narrow forehead Nephrotic syndrome Glomerulosclerosis Focal segmental glomerulosclerosis Minimal change glomerulonephritis Intellectual disability, severe Myopathy Abnormality of the dentition Pes cavus Prominent nose Postnatal growth retardation Sparse hair Blepharophimosis Short philtrum Prominent nasal bridge Small for gestational age Synophrys Long face Abnormality of ganglioside metabolism



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