Feeding difficulties, and Corneal dystrophy

Diseases related with Feeding difficulties and Corneal dystrophy

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Corneal dystrophy that can help you solving undiagnosed cases.

Top matches:

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Low match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

Other less relevant matches:

Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3 Is also known as corneal dystrophy, fuchs endothelial, late-onset|fcd2 locus

Related symptoms:

  • Visual impairment
  • Edema
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 Is also known as corneal dystrophy, fuchs endothelial, late-onset

Related symptoms:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of FECD, see FECD1 (OMIM ).

Related symptoms:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8

Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999).Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance (OMIM ) is rare (Kashtan, 1999).See also benign familial hematuria (BFH ), a phenotypically similar, but milder disorder.Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (OMIM ) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME ).

ALPORT SYNDROME, X-LINKED; ATS Is also known as nephropathy and deafness, x-linked

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME, X-LINKED; ATS

Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE Is also known as generalized mitis rdeb|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|autosomal recessive dystrophic epidermolysis bullosa, generalized other|rdeb, generalized intermediate|rdeb-generalized other|rdeb, non-hallopeau-siemens type|r

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Dysphagia
  • Visual loss


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE

Top 5 symptoms//phenotypes associated to Feeding difficulties and Corneal dystrophy

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Corneal opacity Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Feeding difficulties and Corneal dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Retinopathy Visual impairment Global developmental delay Hearing impairment Dyspnea Headache Congestive heart failure Cardiomyopathy Osteopenia Failure to thrive Hypertension Visual loss Inguinal hernia

Rare Symptoms - Less than 30% cases

Corneal erosion Pallor Sensorineural hearing impairment Abnormal heart valve morphology Widely spaced teeth Constipation Flexion contracture Elbow flexion contracture Dermatan sulfate excretion in urine Pneumonia Recurrent respiratory infections Dolichocephaly Urinary glycosaminoglycan excretion Cognitive impairment Aortic regurgitation Hemiplegia Vomiting Splenomegaly Kyphosis Hydrocephalus Short neck Hernia Sleep apnea Apnea Coarse facial features Umbilical hernia Macrocephaly Hepatosplenomegaly Hepatomegaly Opacification of the corneal stroma Carious teeth Pes cavus Obstructive sleep apnea Progressive neurologic deterioration Stroke Delayed eruption of teeth Mental deterioration Macroglossia Recurrent otitis media Glaucoma Hypertrichosis Thrombocytopenia Asthma Respiratory insufficiency Foam cells Fatigue Myopia Cataract Muscular hypotonia Photophobia Myelopathy Intellectual disability, profound Growth delay Retinal fold Dysphagia Congenital cataract Split hand Reduced visual acuity Dry skin Dysostosis multiplex Recurrent upper respiratory tract infections Exercise intolerance Chronic diarrhea Heparan sulfate excretion in urine Neurodegeneration Abnormality of skin pigmentation Hyperkeratosis Abnormality of premolar morphology Delayed ossification of the hand bones Proximal tapering of metacarpals Abnormal mandible coronoid process morphology Bullet-shaped phalanges of the hand Abnormality of the tympanic membrane Stiff interphalangeal joints Abnormality of glycosaminoglycan metabolism Dysarthria Increased size of nasopharyngeal adenoids Abnormality of the wing of the ilium Gait disturbance Blindness Dystonia Broad long bone diaphyses Abnormality of metabolism/homeostasis Abnormal mandibular ramus morphology Cervical subluxation Enlarged vertebral pedicles Flared nostrils Enlargement of the wrists Abnormal hand morphology Hip subluxation Atlantoaxial dislocation Abnormality of the gingiva J-shaped sella turcica Prominent sternum Anterior rib cupping Large sella turcica Narrow pelvis bone Cervical myelopathy Meckel diverticulum Anterior open bite Abnormal nerve conduction velocity Difficulty standing Sclerosis of skull base Large face Mucopolysacchariduria Biconcave vertebral bodies Chronic rhinitis Abnormality of the middle ear ossicles Calvarial hyperostosis Deformed humerus Enlarged tonsils Thick skull base Delayed tarsal ossification Abnormality of joint mobility Broad ischia Flaring of rib cage Abnormality of lysosomal metabolism Mandibular condyle hypoplasia Scarring Hypoplastic cervical vertebrae C1-C2 subluxation Thoracolumbar kyphoscoliosis Abnormality of the tonsils Calcification of falx cerebri Hypoplasia of the femoral head Abnormality of the pubic bone Abnormality of mucopolysaccharide metabolism Lumbar kyphosis Abnormal CNS myelination Cervical kyphosis Short mandibular rami Hernia of the abdominal wall Respiratory tract infection Weight loss Bronchiectasis Pigmentary retinopathy Incoordination Spastic tetraparesis Intellectual disability, progressive Hoarse voice Abnormality of retinal pigmentation Tetraparesis Thick lower lip vermilion Spastic tetraplegia Tetraplegia Scaphocephaly Postural instability Abnormality of the cerebral white matter Attention deficit hyperactivity disorder Rod-cone dystrophy Severe short stature Ptosis Cylindruria Morphological abnormality of the semicircular canal Lentiglobus Mild short stature Papilledema Diffuse leiomyomatosis Squamous cell carcinoma Abnormality of the anus Oral mucosal blisters Esophageal stricture Ankyloglossia Aplasia cutis congenita Fragile skin Skin vesicle Atrophic scars Milia Abnormality of the hair Intestinal pseudo-obstruction Delayed puberty Hypotrichosis Nail dystrophy Narrow mouth Alopecia Anemia Retinoschisis Tracheobronchomalacia Cervical cord compression Anterior lenticonus Diffuse glomerular basement membrane lamellation Hypohidrosis Corneal scarring Abnormal diaphysis morphology Midface retrusion Renal insufficiency Generalized reticulate brown pigmentation Cutaneous amyloidosis Recurrent infection of the gastrointestinal tract Urethral stricture Broad eyebrow Enterocolitis Stage 5 chronic kidney disease Focal dystonia Ulcerative colitis Amyloidosis Colitis Inflammation of the large intestine Keratitis Failure to thrive in infancy Recurrent pneumonia Hyperpigmentation of the skin Proteinuria Ichthyosis Neoplasm of the colon Microscopic hematuria Uterine neoplasm Lenticonus Thickening of the glomerular basement membrane Macroscopic hematuria Periorbital edema Elliptocytosis Abdominal situs inversus Tubulointerstitial nephritis Edema of the lower limbs Hypoparathyroidism Hematuria Glomerulopathy Macular dystrophy Nephritis Chronic kidney disease Tinnitus Leukopenia Subcutaneous nodule Nephrotic syndrome Bilateral sensorineural hearing impairment Recurrent ear infections Hypoplasia of the odontoid process Diaphyseal thickening Abnormality of the skeletal system Prominent forehead Arrhythmia Depressivity Long philtrum Behavioral abnormality Abnormality of the dentition Anteverted nares Frontal bossing Proptosis Skeletal muscle atrophy Wide nasal bridge Depressed nasal bridge Delayed speech and language development Abnormal facial shape Micrognathia Hypertelorism Scoliosis Abdominal pain Kyphoscoliosis Depletion of mitochondrial DNA in muscle tissue Severe global developmental delay Inability to walk Wide nose Hirsutism Thick eyebrow Retinal degeneration Genu valgum Abnormality of eye movement Synophrys Pectus carinatum Skeletal dysplasia Nyctalopia Abnormal pyramidal sign Camptodactyly of finger Craniosynostosis Wide mouth Joint stiffness Conductive hearing impairment Elevated hepatic transaminase Short stature Abnormal muscle fiber protein expression High, narrow palate Hypertrophic cardiomyopathy Pulmonary arterial hypertension Esotropia Aciduria Increased serum lactate Generalized muscle weakness Lactic acidosis Feeding difficulties in infancy Acidosis Cardiac arrest Cerebellar hypoplasia Myopathy Respiratory distress Motor delay Muscle weakness Strabismus Nystagmus Generalized hypotonia Hemiparesis Tachypnea Exercise-induced lactic acidemia Right ventricular hypertrophy Infantile axial hypotonia Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination 3-Methylglutaconic aciduria Skeletal myopathy Organic aciduria Cardiorespiratory arrest Ragged-red muscle fibers Meningocele Mitochondrial myopathy Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Premature ovarian insufficiency Abnormal electroretinogram Easy fatigability Eosinophilia Thick vermilion border Everted lower lip vermilion Delayed ossification of carpal bones Peripheral visual field loss Diastasis recti Gingivitis Abnormality of the clavicle Abnormality of the skull Recurrent lower respiratory tract infections Abnormality of the elbow Shallow orbits Protuberant abdomen Tracheal stenosis Palpebral edema Short clavicles Protruding tongue Thoracic scoliosis Rhinitis Spinal canal stenosis Arthropathy Thickened calvaria Abnormality of the respiratory system Beaking of vertebral bodies Coronary artery atherosclerosis Seborrheic dermatitis Broad femoral neck Rhinorrhea Abnormality of peripheral nerve conduction Sagittal craniosynostosis Hypoplasia of teeth Abnormal aortic valve morphology Constrictive median neuropathy Endocardial fibroelastosis Abnormal mitral valve morphology Large earlobe Pulmonary edema Flared iliac wings Cor pulmonale Conical tooth Angina pectoris Hypoplastic ilia Upper airway obstruction Communicating hydrocephalus Restrictive ventilatory defect Flared metaphysis Sleep disturbance Cardiomegaly Left ventricular hypertrophy Decreased body weight Encephalocele Abnormal form of the vertebral bodies Mitral regurgitation Myocardial infarction Interphalangeal joint contracture of finger Lumbar hyperlordosis Abnormality of the ribs Thickened skin Abnormality of the cardiovascular system Microdontia Progressive visual loss Hip dysplasia Abnormality of the skin Limitation of joint mobility Full cheeks Broad nasal tip Long eyelashes Abnormality of epiphysis morphology Multiple joint contractures Hyperammonemia Metatarsus adductus Toe walking Heart murmur Stridor Language impairment Back pain Prominent supraorbital ridges Increased intracranial pressure Progressive hearing impairment Gingival overgrowth Cerebral palsy Coxa vara Abnormality of dental enamel Spastic paraparesis Coxa valga Generalized hirsutism Abnormal vertebral morphology Exotropia Mitten deformity


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Retinal detachment, related diseases and genetic alterations