Feeding difficulties, and Glaucoma

Diseases related with Feeding difficulties and Glaucoma

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

Top matches:

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by Ng et al., 2018).For an overview of congenital disorders of glycosylation (CDG), see CDG1A (OMIM ) and CDG2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION; CDGF

Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Other less relevant matches:

Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

AICARDI-GOUTIÈRES SYNDROME Is also known as encephalopathy with basal ganglia calcification|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AICARDI-GOUTIÈRES SYNDROME

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

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

Top 5 symptoms//phenotypes associated to Feeding difficulties and Glaucoma

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Cataract Hearing impairment Failure to thrive Feeding difficulties in infancy Strabismus Congenital glaucoma Anemia Short stature Abnormality of the skeletal system Hypogonadism Agenesis of corpus callosum Sensorineural hearing impairment Skin rash Spasticity Hypertrophic cardiomyopathy Cardiomyopathy Scoliosis Respiratory insufficiency Frontal bossing Mandibular prognathia Nystagmus Muscle weakness Myopia Atrial septal defect Micrognathia Microphthalmia Abnormal facial shape Severe global developmental delay Hip dislocation Corneal opacity Cerebral cortical atrophy Thrombocytopenia

Rare Symptoms - Less than 30% cases

Hyperreflexia Pain Delayed puberty Congenital hip dislocation Deep white matter hypodensities Myopathy Optic atrophy Ataxia Increased serum lactate Chilblains CSF lymphocytic pleiocytosis Basal ganglia calcification Leukoencephalopathy Leukodystrophy Postnatal microcephaly Intellectual disability, profound Cerebral calcification Hypoplasia of the corpus callosum Dyspnea Sparse hair Delayed eruption of teeth Midface retrusion Hernia Visual loss Severe short stature Respiratory failure Erythema Blepharophimosis Nail dystrophy Anal atresia Abnormality of skin pigmentation Hypopigmentation of the skin Reduced subcutaneous adipose tissue Dermal atrophy Anteriorly placed anus Osteoporosis Difficulty walking Skeletal dysplasia Kyphosis Skeletal muscle atrophy Easy fatigability Cryptorchidism Talipes equinovarus Vomiting Headache Respiratory distress Fatigue Hypertension Muscular hypotonia Irritability Ventricular septal defect Muscular hypotonia of the trunk Poor head control Splenomegaly Hepatomegaly Hypoplasia of the brainstem Osteopenia Kyphoscoliosis Short nose Retrognathia Intrauterine growth retardation Wide nasal bridge High palate Muscular dystrophy Coloboma Polyhydramnios Progressive microcephaly Hydrocephalus Cerebellar hypoplasia Hepatosplenomegaly Prematurely aged appearance Aplasia/Hypoplasia of the skin Absent septum pellucidum Sclerocornea Thin ribs Severe failure to thrive Subcapsular cataract Aplasia cutis congenita Anencephaly Severe intrauterine growth retardation Posterior embryotoxon Male pseudohermaphroditism Abnormal eyelid morphology Abnormal eyelash morphology Ocular albinism Periventricular leukomalacia Retinal dysplasia Overriding aorta Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Neurodevelopmental delay Functional motor deficit Ovotestis Abnormality of the penis Mandibular aplasia Abnormality of the anus Echolalia Tricuspid valve prolapse Abnormal nasolacrimal system morphology Epispadias Abnormality of earlobe Chordee Hypoplasia of the uterus Colpocephaly Abnormality of the testis Supraventricular tachycardia Abnormality of the ear Preauricular pit Dysphasia Dilated cardiomyopathy Pigmentary retinopathy Specific learning disability Excessive wrinkled skin Retinal dystrophy Iris coloboma Wide nose Tachycardia Narrow nasal ridge Calcaneovalgus deformity Abnormal cardiac septum morphology Ambiguous genitalia Dermal translucency Micropenis Wide cranial sutures Abnormal heart morphology Arrhythmia Corneal arcus Hypospadias Abnormality of metabolism/homeostasis Polar cataract Hypoargininemia Mitral valve prolapse Congenital diaphragmatic hernia Aphasia Mutism Albinism Histiocytoid cardiomyopathy Tricuspid regurgitation Ventricular fibrillation Anophthalmia Clitoral hypertrophy Patent foramen ovale Progeroid facial appearance Premature skin wrinkling Hypopigmented skin patches Status epilepticus Sacral dimple Intellectual disability, progressive Abnormality of dental enamel Abnormality of the nail Hyperpigmentation of the skin Cafe-au-lait spot Overlapping fingers Abnormality of retinal pigmentation Amblyopia Mitral regurgitation Orbital cyst Neoplasm Vitritis Annular pancreas Low-set ears Hypertelorism Forearm reduction defects Zonular cataract Hypotelorism Bilateral radial aplasia Decreased fetal movement Juvenile cataract Blue sclerae Duodenal stenosis Depressed nasal bridge Fine hair Thin skin Large fontanelles Wide anterior fontanel Iris atrophy Aplasia/Hypoplasia of the patella Skin erosion Elbow flexion contracture Acantholysis Delayed speech and language development Tremor Rectovaginal fistula Distal amyotrophy Protruding ear Postnatal growth retardation Joint laxity Umbilical hernia High forehead Macrotia Narrow mouth Thin vermilion border Joint hypermobility Triangular face Anteverted nares Brachycephaly Prominent forehead Posteriorly rotated ears Delayed skeletal maturation Inguinal hernia Patent ductus arteriosus Underdeveloped nasal alae Pectus excavatum Absent speech Malar flattening Patellar aplasia Concave nasal ridge Abnormality of the rectum Diarrhea Microcornea Short foot Small hand Short palm Flat face Small for gestational age Hyperkeratosis Adducted thumb Alopecia Hyperextensible skin Growth hormone deficiency Poor suck Redundant skin Athetosis Mild short stature Multiple joint contractures Cleft palate Scarring Anal fistula Asymmetric, linear skin defects Cleft earlobe Hypodontia Microdontia Poikiloderma Basal cell carcinoma Wormian bones Osteosarcoma Absent radius Abnormality of cardiovascular system morphology Aplasia/Hypoplasia of the thumb Increased number of teeth Skin vesicle Absent thumb Agenesis of permanent teeth Premature graying of hair Cutaneous photosensitivity Squamous cell carcinoma Pyloric stenosis Sarcoma Neoplasm of the skin Opacification of the corneal stroma Cutis laxa Hyperammonemia Short thumb Telangiectasia Short palpebral fissure Proportionate short stature Bone marrow hypocellularity Syndactyly Autoamputation Developmental regression Diabetes mellitus Dementia Constipation Behavioral abnormality Dysarthria Peripheral neuropathy Increased CSF interferon alpha Chronic CSF lymphocytosis Multiple gastric polyps CSF pleocytosis Ophthalmoplegia Lymphocytosis Vegetative state Morphological abnormality of the pyramidal tract Diffuse cerebral atrophy Acrocyanosis Progressive encephalopathy Episodic fever Atrophy/Degeneration affecting the brainstem Prolonged neonatal jaundice Petechiae Joint stiffness Malabsorption Systemic lupus erythematosus Gastric ulcer Toe walking Scaling skin Plagiocephaly Lower limb spasticity Choreoathetosis Delayed myelination Dry skin Hypertonia Ptosis Abnormality of mesentery morphology Central apnea Nephropathy Male hypogonadism Dysuria Diabetes insipidus Polydipsia Abnormality of the urinary system Abnormal autonomic nervous system physiology Hallucinations Recurrent urinary tract infections Gastrointestinal hemorrhage Sleep disturbance Spastic diplegia Encephalitis Arthropathy Lissencephaly Agyria Type II lissencephaly Retinal coloboma Abnormally large globe Hypoventilation Occipital encephalocele Congenital muscular dystrophy CNS hypomyelination Arnold-Chiari malformation Respiratory insufficiency due to muscle weakness Encephalocele Hypothyroidism Cerebellar vermis hypoplasia High myopia Bilateral sensorineural hearing impairment Retinal degeneration Poor speech Neonatal hypotonia Reduced visual acuity Elevated serum creatine phosphokinase Ventriculomegaly Macrocephaly Cortical cataract Hypoglycemia Cerebral palsy Recurrent infections Spastic tetraplegia Abnormality of extrapyramidal motor function Hepatitis Peripheral demyelination Brain atrophy Tetraplegia Abnormality of the cerebral white matter Elevated hepatic transaminase Pneumonia Encephalopathy Dilatation Broad forehead Cerebral atrophy Dystonia Cerebellar atrophy Fever Congenital neutropenia Buphthalmos Nephrocalcinosis Narrow forehead Limb undergrowth Neutropenia Hirsutism Hemiplegia/hemiparesis Thrombocytosis Blindness Leukopenia Poor appetite Aplasia/Hypoplasia of the radius Abnormality of the vertebral column Metaphyseal dysplasia Elevated erythrocyte sedimentation rate Hyperostosis Cachexia Abnormality of pelvic girdle bone morphology Tinnitus Increased intracranial pressure Coxa valga Gangrene Vasculitis Increased bone mineral density Bone pain Diplopia Anorexia Lumbar hyperlordosis Waddling gait Limitation of joint mobility Sensory neuropathy Vertigo Abnormality of the skull Raynaud phenomenon Carious teeth Limb pain Elevated aldolase level Abnormal subcutaneous fat tissue distribution Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Diaphyseal dysplasia Diaphyseal sclerosis Cranial nerve compression Abnormality of the radius Cranial hyperostosis Abnormality of the ulna Sclerosis of skull base Lower limb pain Abnormal diaphysis morphology Urinary retention Abnormality of the humerus Otosclerosis Extramedullary hematopoiesis Abnormality of femur morphology Abnormality of tibia morphology Slender build Facial paralysis Genu valgum Neurological speech impairment Central hypotonia Generalized muscle weakness Eosinophilia Ragged-red muscle fibers Tachypnea Corneal dystrophy Exercise intolerance Cardiac arrest Hemiparesis Pulmonary arterial hypertension Esotropia Aciduria Lactic acidosis Abnormal electroretinogram Congenital cataract Stroke Mental deterioration Acidosis Congestive heart failure Motor delay Arrhinencephaly Porencephalic cyst Immune dysregulation Eyelid coloboma Recurrent upper respiratory tract infections Premature ovarian insufficiency Paralysis Exercise-induced lactic acidemia Hyperlordosis Facial palsy Abnormality of the nervous system Proximal muscle weakness Pes planus Proptosis Hyperactivity Gait disturbance Depletion of mitochondrial DNA in muscle tissue Abnormal muscle fiber protein expression Infantile axial hypotonia Abnormality of mitochondrial metabolism Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination 3-Methylglutaconic aciduria Skeletal myopathy Organic aciduria Right ventricular hypertrophy Cardiorespiratory arrest Meningocele Mitochondrial myopathy Prominent superficial blood vessels


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