Feeding difficulties, and Macular degeneration

Diseases related with Feeding difficulties and Macular degeneration

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

Top matches:

Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Medium match CHERUBISM

Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.

CHERUBISM Is also known as crbm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHERUBISM

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

Other less relevant matches:

Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Low match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Low match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 59; RP59

Top 5 symptoms//phenotypes associated to Feeding difficulties and Macular degeneration

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Feeding difficulties and Macular degeneration. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Sensorineural hearing impairment Optic atrophy Intellectual disability Hepatomegaly Global developmental delay Motor delay Congestive heart failure Dyspnea Ataxia Peripheral neuropathy Visual loss Feeding difficulties in infancy Hypertrophic cardiomyopathy Proteinuria Dilated cardiomyopathy Dysphagia Rod-cone dystrophy Ptosis Muscle weakness Hypertonia Nystagmus Pain Abnormality of the dentition Blindness Fatigue Recurrent respiratory infections Ophthalmoplegia Respiratory distress Aspiration Ventricular hypertrophy Muscular hypotonia Hypertension Cataract Pneumonia Cognitive impairment Short stature Encephalopathy Hypothyroidism Pigmentary retinopathy Splenomegaly Postnatal growth retardation Gait disturbance Type II diabetes mellitus Skeletal muscle atrophy Myopathy Respiratory insufficiency Myalgia EEG abnormality Gastroesophageal reflux Acidosis Respiratory failure Delayed puberty Dilatation Spasticity Pulmonary arterial hypertension Microcephaly Photophobia Visual impairment Left ventricular hypertrophy Abnormality of retinal pigmentation Muscular hypotonia of the trunk Mental deterioration Renal insufficiency Cerebellar atrophy Hyperreflexia Retinal degeneration

Rare Symptoms - Less than 30% cases

Pericardial effusion Kyphosis Elevated serum creatine phosphokinase Areflexia Arrhythmia Dystonia Headache Sleep disturbance Vomiting Short neck Status epilepticus Decreased body weight Renal tubular dysfunction Decreased liver function Specific learning disability Increased body weight Abnormal macular morphology Abnormality of the cerebellar vermis Polymicrogyria Fever Neurodevelopmental delay Macular atrophy Bronchitis Abnormality of immune system physiology Scoliosis Severe sensorineural hearing impairment Chronic fatigue Aspiration pneumonia Abnormality of the optic disc Hirsutism Nephropathy Stroke-like episode Emphysema Dysphasia Attenuation of retinal blood vessels Generalized tonic-clonic seizures Cerebellar hypoplasia Wolff-Parkinson-White syndrome Nyctalopia Carious teeth Abnormality of the liver Involuntary movements Abdominal pain Hypertelorism Weight loss Autism Ventriculomegaly Atrioventricular block Atherosclerosis Jaundice Constipation Nausea Depressivity Conductive hearing impairment Congenital cataract Hyporeflexia Stroke Elevated hepatic transaminase Urinary incontinence Diabetes mellitus Abnormality of the cardiovascular system Respiratory tract infection Cardiomegaly Myoclonus Hypogonadism Cerebral cortical atrophy EMG abnormality Apnea Hyperkinesis Hyperpigmentation of the skin Optic neuropathy Dementia Progressive sensorineural hearing impairment Aplasia/Hypoplasia of the cerebellum Edema Retinal pigment epithelial atrophy Anemia Strabismus Generalized hirsutism Hypogonadotrophic hypogonadism Ophthalmoparesis Pancreatitis Cone/cone-rod dystrophy Tubulointerstitial nephritis Constriction of peripheral visual field Micrognathia Progressive visual loss Goiter Round face Recurrent otitis media Hemeralopia Posterior subcapsular cataract Delayed myelination Scarring Osteoporosis Delayed skeletal maturation Glomerulopathy Delayed speech and language development Low-set ears Cryptorchidism Generalized myoclonic seizures Cleft palate Reduced visual acuity Abnormality of the mandible Abnormal facial shape Depressed nasal bridge Neurological speech impairment Dysarthria Epicanthus Abnormality of the eye Dysmetria Hepatosplenomegaly Intrauterine growth retardation Sensory impairment Anorexia Psychosis Cerebral atrophy Transient ischemic attack Cerebral ischemia Seborrheic dermatitis Delusions Cardiorespiratory arrest Facial diplegia Anterior hypopituitarism Aortic dissection Reduced consciousness/confusion Visual hallucinations Increased CSF lactate Gait imbalance Hepatic steatosis Lymphadenopathy Otitis media Hepatic fibrosis Insulin resistance Chronic diarrhea Thickened skin Recurrent urinary tract infections Vitiligo Hypertriglyceridemia Epidermal acanthosis Xerostomia Optic disc pallor Hepatitis Cyanosis Decreased testicular size Growth hormone deficiency Progressive external ophthalmoplegia Gastrointestinal hemorrhage Vesicoureteral reflux Heart block Hypoparathyroidism Mitochondrial myopathy Asthma Abdominal distention Ascites Retinal dystrophy Hepatic failure Tachycardia Cirrhosis Stage 5 chronic kidney disease Left ventricular failure Speech apraxia Dry skin Morphological abnormality of the inner ear Tubulointerstitial abnormality Psychotic episodes Crohn's disease Polydactyly Spotty hypopigmentation Paronychia Hyperhidrosis Alopecia Patent ductus arteriosus Clinodactyly Obesity Behavioral abnormality Prominent ear helix Morphological abnormality of the vestibule of the inner ear Abnormal nerve conduction velocity Abnormal mitochondrial morphology Bilateral intracranial calcifications Edema of the dorsum of hands Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Gynecomastia Cochlear malformation Paralytic ileus Abnormal mitochondrial shape Progressive night blindness Cochlear degeneration Renal Fanconi syndrome Auditory hallucinations Infertility Episodic vomiting Pulmonic stenosis Hypermetropia Hypotrichosis Cough Retinopathy Abnormality of peripheral nerve conduction Proximal tubulopathy Sparse hair Ileus Autistic behavior Hemianopia Abnormality of the renal tubule Pallor Irritability Amaurosis fugax Motor polyneuropathy Dysesthesia Psychomotor deterioration Muscle fiber atrophy Abnormality of the kidney Writer's cramp Persistence of primary teeth Deeply set eye Pes planus Kyphoscoliosis Leber optic atrophy Hyperkeratosis Spontaneous hematomas Gastroparesis Sinusitis Peripheral visual field loss Short toe Epigastric pain Decreased glomerular filtration rate Abnormal spermatogenesis Chronic infection Abnormality of the urethra Lumbar scoliosis Abnormality of dental color Abnormal chorioretinal morphology Melena Urethral stricture Impaired temperature sensation Female hypogonadism Abnormal muscle tone Albuminuria Renovascular hypertension Squared iliac bones First degree atrioventricular block Hematemesis Abnormality of the pituitary gland Acute pancreatitis Tubulointerstitial fibrosis Elevated C-reactive protein level Arteriosclerosis Urinary retention Poor fine motor coordination Pyelonephritis Chills Achromatopsia Frontal balding Urethral stenosis Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Bull's eye maculopathy Vertical nystagmus Increased total bilirubin Urethral obstruction Hypoplastic male external genitalia Abnormal left ventricle morphology Vitreous haze Abnormal retinal artery morphology Precocious puberty in females EEG with occipital slowing Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Abnormality of the femoral head Recurrent cystitis Opisthotonus Weak cry Breech presentation Profound global developmental delay Caesarian section Micropenis Macular edema Widely-spaced incisors Glue ear Hepatic necrosis Exudative retinopathy Chronic hepatic failure Facial hirsutism ST segment depression Multifocal atrial tachycardia Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Increased circulating androgen level Nonproductive cough Unilateral breast hypoplasia Abnormal adipose tissue morphology Chronic active hepatitis Hyperostosis frontalis interna Receptive language delay Granular macular appearance Thickened ears Dilatation of the bladder Testicular atrophy Abnormal renal physiology Hypergonadotropic hypogonadism Glucose intolerance Obsessive-compulsive behavior Impaired vibratory sensation Acne Hyperostosis Hyperglycemia Diabetes insipidus Polyuria Nephritis Pulmonary fibrosis Hydroureter Urinary urgency Truncal obesity Abnormal retinal morphology Chorioretinal atrophy Polyphagia Chronic otitis media Polydipsia Agenesis of permanent teeth Hypercholesterolemia Recurrent pneumonia Horizontal nystagmus Nephrocalcinosis Absence seizures Accelerated skeletal maturation Acanthosis nigricans Hyperlipidemia Tachypnea Portal hypertension Polycystic ovaries Abnormality of the hand Cholelithiasis Elevated alkaline phosphatase Precocious puberty Hyperinsulinemia Lipodystrophy Short finger Glycosuria Disinhibition Chronic obstructive pulmonary disease Recurrent bronchitis Tubular atrophy Myocarditis Oligospermia Male hypogonadism Myocardial fibrosis Esophageal varix Elevated serum creatinine Restrictive cardiomyopathy High-frequency hearing impairment Ovarian cyst Decreased HDL cholesterol concentration Menstrual irregularities Abnormal renal morphology Endocardial fibroelastosis Acute hepatic failure Right ventricular hypertrophy Hyperuricemia Retinal atrophy Increased number of teeth Subcapsular cataract Pericarditis Thoracic scoliosis Autoimmune thrombocytopenia Hypoventilation Insulin-resistant diabetes mellitus Abnormality of visual evoked potentials Pendular nystagmus Alopecia of scalp Hyperventilation Poor coordination Oligomenorrhea Broad foot Ketoacidosis Gingivitis Neonatal hypoglycemia Paresthesia Hashimoto thyroiditis Proximal muscle weakness Dilatation of the cerebral artery Difficulty running Exertional dyspnea Nasal speech Delayed gross motor development Respiratory insufficiency due to muscle weakness Scapular winging Progressive muscle weakness Peripheral demyelination Macroglossia Generalized muscle weakness Limb muscle weakness Muscular dystrophy Paralysis Hypoglycemia Pelvic girdle muscle weakness Difficulty walking Osteopenia Abnormality of metabolism/homeostasis Erlenmeyer flask deformity of the femurs Mitral valve calcification Aortic valve calcification Vertical supranuclear gaze palsy Hypersplenism Abnormal myocardium morphology Multiple myeloma Vertebral compression fractures Pulmonary infiltrates Aseptic necrosis Pathologic fracture Progressive proximal muscle weakness Diaphragmatic paralysis Increased antibody level in blood Cleft upper lip Open mouth Progressive neurologic deterioration Cerebellar vermis hypoplasia Hypotelorism Narrow forehead Decreased antibody level in blood Sepsis Triangular face Hypopigmentation of the skin Neutropenia High, narrow palate Thick vermilion border Wide nose Pulmonary hypoplasia Severe global developmental delay Increased muscle fatiguability Joint stiffness Cleft lip Coarse facial features Agenesis of corpus callosum Hypospadias Recurrent infections Immunodeficiency Long philtrum Anteverted nares High palate Firm muscles Abnormal CNS myelination Shortened PR interval Abdominal wall muscle weakness Interstitial pulmonary abnormality Oral-pharyngeal dysphagia Progressive microcephaly Obstructive sleep apnea Posteriorly rotated ears Abnormal heart morphology Microphthalmia Intellectual disability, mild Intellectual disability, severe Atrial septal defect Talipes equinovarus Lower eyelid retraction Marcus Gunn pupil Broad jaw Macular scar Bone cyst Clubbing of fingers Upper airway obstruction Striae distensae Thin upper lip vermilion Abnormality of dental morphology Clubbing Abnormality of the voice Oligodontia Full cheeks Craniosynostosis Proptosis Neoplasm Abnormal fundus morphology Restless legs Orofacial dyskinesia Dysdiadochokinesis Neonatal hypotonia Babinski sign Narrow mouth Joint laxity Stridor Neonatal asphyxia Increased susceptibility to fractures Shock Osteolysis Increased bone mineral density Bone pain Hydrops fetalis Abnormal lung morphology Epistaxis Pancytopenia Hematuria Bruising susceptibility Thrombocytopenia Abnormality of the skeletal system Multiple bladder diverticula Abnormal palmar dermatoglyphics Blepharophimosis Widely spaced teeth Microtia Talipes Bulbous nose Microdontia Amblyopia Torticollis Abnormality of the outer ear Epicanthus inversus Scrotal hypoplasia Heart murmur Prominent occiput Congenital hypothyroidism Hypoplasia of teeth Patellar hypoplasia Heterotopia Lymphopenia Atopic dermatitis Clonus Growth abnormality Easy fatigability Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Purpura Exercise intolerance Type I diabetes mellitus Truncal ataxia Cardiac arrest Cerebral visual impairment Cachexia Hallucinations Gingival overgrowth Hypertrichosis Hemiparesis Atrial fibrillation Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Cerebral calcification Amenorrhea Hip dysplasia Memory impairment Increased serum lactate Migraine Chronic kidney disease Decreased nerve conduction velocity Abnormal cerebellum morphology Aphasia Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Vestibular dysfunction Bundle branch block Hypercalciuria Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Intestinal obstruction Personality changes Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Sudden cardiac death Muscle cramps Recurrent bacterial infections Fair hair Abnormality of the thymus Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Pontocerebellar atrophy Granulocytopenia Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Hypoplasia of the pons Ocular albinism Schizencephaly Depressed nasal tip Severe failure to thrive IgG deficiency Hypopigmentation of hair Renal tubular acidosis Centrally nucleated skeletal muscle fibers Combined immunodeficiency Albinism Congenital sensorineural hearing impairment Poor suck Adducted thumb Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Leukopenia Muscle flaccidity Frontoparietal polymicrogyria Postural instability Erythema Coma Polyneuropathy Lactic acidosis Peripheral axonal neuropathy Vertigo Ichthyosis Confusion Anal atresia Malabsorption Nausea and vomiting Arthrogryposis multiplex congenita Lethargy Pruritus Attention deficit hyperactivity disorder Protruding ear Abnormal immunoglobulin level Severe T-cell immunodeficiency Cutaneous anergy Decreased T cell activation Aplasia/Hypoplasia of the macula Ureteral atresia Immunoglobulin IgG2 deficiency Penile hypospadias White matter neuronal heterotopia Abnormality of the pinna Acute bronchitis Tremor Diarrhea Gait ataxia Anxiety Developmental regression Cystoid macular edema


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