Failure to thrive, and Esotropia

Diseases related with Failure to thrive and Esotropia

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

Top matches:

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

COXPD35 is an autosomal recessive disorder characterized mainly by global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other types of seizures. Affected individuals have variable deficiencies of mitochondrial respiratory enzyme complexes resulting from a defect in mitochondrial metabolism (summary by Kernohan et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35

Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

Other less relevant matches:

Medium match DDOST-CDG

DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).

DDOST-CDG Is also known as carbohydrate deficient glycoprotein syndrome type ir|congenital disorder of glycosylation type ir|cdg-ir|congenital disorder of glycosylation type 1r|cdg syndrome type ir|cdg1r

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about DDOST-CDG

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

Top 5 symptoms//phenotypes associated to Failure to thrive and Esotropia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Esotropia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Feeding difficulties Hypoplasia of the corpus callosum Prominent forehead Spasticity Depressed nasal bridge Scoliosis Osteopenia Low-set ears Gastroesophageal reflux Constipation Short stature Apnea Encephalopathy Absent speech Cerebral atrophy Thin upper lip vermilion Broad forehead Joint laxity Anteverted nares Hypertelorism Abnormal facial shape

Rare Symptoms - Less than 30% cases

Behavioral abnormality Smooth philtrum Open mouth Prominent nose Ptosis Hyperactivity Upslanted palpebral fissure Macrocephaly Hypertonia Respiratory failure Hip contracture Downslanted palpebral fissures Intrauterine growth retardation Epicanthus Ventriculomegaly Muscular hypotonia of the trunk Prominent supraorbital ridges Delayed speech and language development Hyperreflexia Frontal bossing Respiratory distress Dysphagia Neurodevelopmental delay Prominent nasal bridge Optic atrophy Cerebral cortical atrophy Dystonia Delayed myelination Anemia Growth delay Decreased skull ossification Delayed closure of the anterior fontanelle Midface retrusion Fetal distress Carious teeth Hypoplasia of teeth Narrow iliac wings Premature loss of teeth High iliac wings Sutural cataract Posterior Y-sutural cataract Posterior wedging of vertebral bodies Punctate cataract Forehead hyperpigmentation Capillary hemangioma Wide anterior fontanel Brittle hair Bifid uvula Pulmonic stenosis Joint hyperflexibility Abnormality of skin pigmentation Thin vermilion border Wide nose Delayed eruption of teeth Hypoplasia of the maxilla Microdontia Coarse hair Sparse hair Wide mouth Pes planus Large fontanelles Skeletal dysplasia Hyperpigmentation of the skin Narrow chest Hemangioma Nystagmus Poor speech Short neck Abnormality of the foot Profound static encephalopathy Flexion contracture Hypertension Abnormality of the skeletal system Talipes equinovarus Retrognathia Hip dislocation Dolichocephaly Arthrogryposis multiplex congenita Exaggerated startle response Hip dysplasia Appendicular hypotonia Long eyelashes Clonus Elbow flexion contracture Deep philtrum Trigonocephaly Sparse eyebrow Oral-pharyngeal dysphagia Overlapping toe Myopathic facies Hand clenching Genu recurvatum Hyperglycinemia Generalized tonic seizures Posteriorly rotated ears Sleep disturbance Brachycephaly High forehead Short philtrum Severe global developmental delay Weak cry Bulbous nose Inability to walk Dyskinesia Small hand Tapered finger Triangular face Profound global developmental delay Brain atrophy Intellectual disability, profound Choreoathetosis Severe muscular hypotonia Plagiocephaly Malar flattening Tented upper lip vermilion Cachexia Failure to thrive in infancy Global brain atrophy Facial hypotonia Infantile muscular hypotonia Hyporeflexia Long philtrum Lipodystrophy Recurrent aspiration pneumonia Tremor Elevated hepatic transaminase Neurological speech impairment Dry skin Hepatic steatosis Decreased liver function Accelerated skeletal maturation CNS hypomyelination Abnormality of the coagulation cascade Trismus Loss of consciousness Recurrent ear infections Primary hypothyroidism Type I transferrin isoform profile Oromotor apraxia Nephrotic range proteinuria Neoplasm Hydrocephalus Microphthalmia Bulbar signs Protuberant abdomen Corneal opacity Abnormal cardiac septum morphology Cognitive impairment Hypothyroidism Aggressive behavior Telecanthus Growth hormone deficiency Myopia Myoclonus Diabetes mellitus EEG abnormality Generalized myoclonic seizures Oculomotor apraxia Optic disc hypoplasia Hepatomegaly Splenomegaly Thrombocytopenia Hepatosplenomegaly Rigidity Developmental regression Ophthalmoplegia Progressive neurologic deterioration Aspiration Leukemia Anal atresia Wide nasal bridge Broad-based gait Pain Peripheral neuropathy Short nose Autism Unsteady gait Thick eyebrow Downturned corners of mouth Everted lower lip vermilion Highly arched eyebrow Stereotypy Retrocerebellar cyst Progressive microcephaly Widely spaced teeth Progressive spasticity Tics Broad columella Happy demeanor Cleft palate Cataract Cryptorchidism High palate Uplifted earlobe Snoring Renal hypoplasia Acute leukemia Short thumb Cafe-au-lait spot Bone marrow hypocellularity Horseshoe kidney Breast carcinoma Myelodysplasia Acute myeloid leukemia Anteriorly placed anus Lipoma Chromosome breakage Obstructive sleep apnea Peters anomaly Medulloblastoma Chromosomal breakage induced by crosslinking agents T-cell acute lymphoblastic leukemias Ataxia Micrognathia Sleep apnea Laryngomalacia Cortical gyral simplification Tracheomalacia Nonketotic hyperglycinemia


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