Strabismus, and Malabsorption

Diseases related with Strabismus and Malabsorption

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


Top matches:

Low match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

Low match PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Low match X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA


X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

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Other less relevant matches:

Low match INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE


INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

Low match HARTNUP DISEASE


Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Low match FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT


Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT Is also known as fhhnc without severe ocular involvement|homg3|hypomagnesemia, isolated renal|hypomagnesemia, primary, due to defect in renal tubular transport of magnesium|renal hypomagnesemia type 3|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Failure to thrive
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT

Low match NEVUS OF ITO


Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Low match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Low match TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1


Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Low match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Top 5 symptoms//phenotypes associated to Strabismus and Malabsorption

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Generalized hypotonia Hepatomegaly Cataract Muscular hypotonia Hearing impairment Steatorrhea Ataxia Sensorineural hearing impairment Seizures Exocrine pancreatic insufficiency Recurrent infections Hyperkeratosis Visual impairment Cognitive impairment Chronic diarrhea Spasticity Growth delay Photophobia Alopecia Delayed speech and language development

Rare Symptoms - Less than 30% cases


Sparse hair Cardiomyopathy Increased bone mineral density Hypoplastic nipples Fatigue Hypothyroidism Flexion contracture Basal cell carcinoma Muscle weakness Fine hair Freckling Small for gestational age Postnatal microcephaly Hypoplasia of penis Feeding difficulties in infancy Fever Skin rash Nail dystrophy Abnormality of the dentition Delayed eruption of teeth Hypopigmentation of the skin Micropenis Nevus Microphthalmia Nail dysplasia Neoplasm Abnormal blistering of the skin Hypocalcemia Astigmatism Abdominal pain Renal insufficiency Myopia Hypertension Cutaneous photosensitivity Thin upper lip vermilion Immunodeficiency Cirrhosis Diarrhea Cryptorchidism Hypertelorism Hyperreflexia Dry skin Cholestasis Dysarthria Wide nasal bridge Ventricular septal defect Hepatic steatosis Areflexia Motor delay Hyporeflexia Abnormal bleeding Gait ataxia Long philtrum Elevated hepatic transaminase Single transverse palmar crease Freckles in sun-exposed areas Hypogonadism Pneumonia Hematochezia Babinski sign Abnormality of the optic nerve Menometrorrhagia Ulcerative colitis Abnormal thrombocyte morphology Impaired platelet aggregation Retrognathia Squamous cell carcinoma of the skin Partial albinism Asthma Protruding ear Brittle hair Keratoconjunctivitis sicca Congenital ichthyosiform erythroderma Decreased fertility Spastic diplegia Squamous cell carcinoma Intestinal obstruction Erythroderma Abnormality of the thorax Dysphonia Intellectual disability, mild Macular degeneration Telangiectasia Abnormality of the face Small nail Eczema Decreased antibody level in blood Abnormality of visual evoked potentials Microcornea Ichthyosis Ocular albinism Restrictive ventilatory defect Gingival bleeding Atrophic, patchy alopecia Neutropenia Bruising susceptibility Dyspnea Weight loss Blindness Abnormality of the nervous system Dysmetria Retinal vascular proliferation Epidermal acanthosis Hyperpigmented streaks Nail pits Retinal hemorrhage Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Supernumerary ribs Breast aplasia Gastrointestinal hemorrhage Epistaxis Severe vision loss Inflammation of the large intestine Iris hypopigmentation Hypopigmentation of hair Colitis Prolonged bleeding time Alopecia of scalp Pulmonary fibrosis Albinism Melanocytic nevus Abnormal lung morphology Melanoma Acanthosis nigricans Abnormality of dental enamel Abnormality of the hair Amblyopia Anorexia Long eyelashes Thickened skin Hyperactive deep tendon reflexes Woolly hair IgG deficiency Clitoral hypertrophy Facial cleft Hypopituitarism Anteriorly placed anus Glycosuria Agenesis of permanent teeth Hydroureter Dextrocardia Congenital sensorineural hearing impairment Portal hypertension Fair hair Abnormality of the genitourinary system Oligodontia Widely spaced teeth Severe muscular hypotonia Hyperbilirubinemia Pointed chin Abnormality of the nail Situs inversus totalis Cafe-au-lait spot Anal stenosis Calvarial skull defect Microdontia Colonic diverticula Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Septate vagina Absent lacrimal punctum Increased VLDL cholesterol concentration Abnormality of the nares Abnormal hair pattern Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Abnormality of the pancreas Rectovaginal fistula Hypoproteinemia Sparse scalp hair Convex nasal ridge Fragile nails Lack of subcutaneous fatty tissue Abnormality of cardiovascular system morphology Dilatation Short nose Intellectual disability, severe Atrial septal defect Edema Intrauterine growth retardation Anemia Tiger tail banding Abnormal heart morphology Jerky ocular pursuit movements Abnormality of hair texture Titubation Trichorrhexis nodosa Corneal neovascularization Congenital nonbullous ichthyosiform erythroderma Pili torti Generalized osteosclerosis Progeroid facial appearance Hypospadias Delayed skeletal maturation Growth hormone deficiency Hypotrichosis Underdeveloped nasal alae Intestinal malrotation Generalized muscle weakness Abdominal distention Hypoplasia of the maxilla Downturned corners of mouth Hepatic failure Anal atresia Dilated cardiomyopathy Clinodactyly of the 5th finger Abnormal cardiac septum morphology Abnormality of the liver Postnatal growth retardation Cleft lip Joint laxity Hydronephrosis Diabetes mellitus Upslanted palpebral fissure Severe short stature Breast hypoplasia Prominent forehead Thick nail Hypertonia Abnormality of the eye Anxiety EEG abnormality Hypocholesterolemia Gastroesophageal reflux Depressivity Headache Hydrocephalus Confusion Gait disturbance Tremor Esodeviation Very long chain fatty acid accumulation Ptosis Pancreatic fibrosis Ankle contracture Shawl scrotum Abnormal electroretinogram Unsteady gait Sensorimotor neuropathy Hypopigmented skin patches Bruxism Gingivitis Delusions Irregular hyperpigmentation Insomnia Emotional lability Encephalitis Abnormality of vision Aminoaciduria Vertigo Hallucinations Diplopia Inflammatory abnormality of the skin Depressed nasal ridge Psychosis Decreased liver function Aciduria Migraine Proximal placement of thumb Progressive microcephaly Methylmalonic aciduria Specific learning disability Lissencephaly Wide anterior fontanel Hypohidrosis Ventriculomegaly Aganglionic megacolon Pachygyria Ambiguous genitalia Decreased testicular size Profound global developmental delay Gliosis Pulmonary hypoplasia Severe global developmental delay Prominent nasal bridge Patent ductus arteriosus High forehead Agenesis of corpus callosum Respiratory failure Infantile spasms Hydranencephaly Hepatic fibrosis Cerebellar atrophy Exotropia Decreased fetal movement Progressive cerebellar ataxia Hip dislocation Distal muscle weakness Micrognathia Brachycephaly Midface retrusion Talipes equinovarus Long upper lip Peripheral neuropathy Abnormal facial shape Low-set ears High palate Type I lissencephaly Temperature instability Abnormality of temperature regulation Duane anomaly Episodic ataxia Abnormal urinary color Ridged nail Kyphoscoliosis Retinal detachment Abnormality of skin pigmentation Hypolipidemia Papule Scarring Erythema Pallor Visual loss Vertical supranuclear gaze palsy Malar flattening Rod-cone dystrophy Optic atrophy Osteoporosis Impaired urinary acidification Hypocitraturia Renal calcium wasting Medullary nephrocalcinosis Vitamin D deficiency Hypodontia Renal magnesium wasting Hyperostosis Conical tooth Anodontia Hypoplasia of the fovea Abnormality of the vasculature Pustule Uveitis Hyperactivity Supernumerary nipple Keratitis Tetraplegia Coarse hair Eosinophilia Hemivertebrae Hyperpigmentation of the skin Lymphedema Slurred speech Ectodermal dysplasia Fat malabsorption Hypermagnesiuria Renal potassium wasting Mood changes Acidosis Nephrolithiasis Recurrent urinary tract infections Hematuria Paresthesia Flat face Infertility Hypermetropia Arthritis Retinal dystrophy Nephrocalcinosis Arrhythmia Polyneuropathy Neutral hyperaminoaciduria Grasp reflex Glabellar reflex Hyperphenylalaninemia Neural tube defect Glossitis Gingival overgrowth Chronic kidney disease Hyposthenuria Hypoparathyroidism Chorioretinitis Enuresis nocturna Persistence of primary teeth Tetany Chondrocalcinosis Enuresis Oligospermia Hypomagnesemia Ankylosis Hypercalciuria Amelogenesis imperfecta Abnormality of lipid metabolism Acute kidney injury Renal tubular acidosis Hyperuricemia Male infertility Polyuria Polydipsia Midline skin dimples over anterior/posterior fontanelles



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Agenesis of corpus callosum, related diseases and genetic alterations Intellectual disability, severe and Gait disturbance, related diseases and genetic alterations Congestive heart failure and Recurrent respiratory infections, related diseases and genetic alterations Macrocephaly and Low-set, posteriorly rotated ears, related diseases and genetic alterations

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