Feeding difficulties, and Telangiectasia

Diseases related with Feeding difficulties and Telangiectasia

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

Top matches:

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Other less relevant matches:

Low match DPM1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

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

KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.

KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as kcnq2-related neonatal epileptic encephalopathy|kcnq2-nee

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY

LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ETHYLMALONIC ENCEPHALOPATHY

Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.

CHRONIC MUCOCUTANEOUS CANDIDIASIS Is also known as card9 immunodeficiency|candidiasis, familial chronic mucocutaneous, autosomal recessive|cmc

Related symptoms:

  • Seizures
  • Fever
  • Behavioral abnormality
  • Immunodeficiency
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHRONIC MUCOCUTANEOUS CANDIDIASIS

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Seizures Hyperkeratosis Erythema Poor suck Edema Depressed nasal bridge Osteoporosis Eczema Immunodeficiency Osteopenia Patent ductus arteriosus Flexion contracture Diarrhea Recurrent infections Skin rash Short palm

Rare Symptoms - Less than 30% cases

Skin ulcer Increased susceptibility to fractures Anemia Cutis laxa Decreased liver function Small for gestational age Microcephaly Hepatomegaly Abnormal facial shape Splenomegaly Motor delay Ataxia Small hand Microcornea Kyphoscoliosis Talipes equinovarus Sensorineural hearing impairment Hearing impairment Hypoplasia of the corpus callosum Short stature Abnormality of vision Muscular dystrophy Hypertelorism Apnea Abnormality of the eye Elevated serum creatine phosphokinase Cerebral atrophy Myopathy Hypertension Strabismus Micrognathia Chronic diarrhea Wide anterior fontanel Squamous cell carcinoma Concave nasal ridge Hypogonadism Basal cell carcinoma Prominent forehead Osteosarcoma Acantholysis Alopecia Poikiloderma Cutaneous photosensitivity Frontal bossing Neoplasm Hypopigmentation of the skin Sparse hair Vomiting Cataract Emphysema Failure to thrive in infancy Umbilical hernia Abnormal lung morphology Muscular hypotonia of the trunk Pneumonia Midface retrusion Poor gross motor coordination EEG with burst suppression Abnormal globus pallidus morphology Chromosome breakage Abnormality of the thymus Mild global developmental delay Bladder diverticulum Follicular hyperkeratosis Increased serum lactate Cleft soft palate Lactic acidosis Developmental regression Acidosis Babinski sign Prominent superficial veins Encephalopathy Bronchiolitis obliterans Increased sensitivity to ionizing radiation Keloids Dermal translucency Bronchiolitis Generalized tonic seizures Epileptic spasms Facial erythema Anteriorly placed anus Patellar aplasia Rectovaginal fistula Absent radius Abnormal eye morphology Proportionate short stature Aplasia/Hypoplasia of the thumb Increased number of teeth Aplasia/Hypoplasia of the patella Skin vesicle Absent thumb Agenesis of permanent teeth Premature graying of hair Pyloric stenosis Sarcoma Dermal atrophy Skin erosion Iris atrophy Profound global developmental delay Abnormality of the cerebral white matter Cerebral edema Soft skin Hypsarrhythmia Epileptic encephalopathy High-frequency sensorineural hearing impairment Inability to walk Pallor Duodenal stenosis Dystonia Forearm reduction defects Zonular cataract Bilateral radial aplasia Juvenile cataract Annular pancreas Arterial rupture Aciduria Arnold-Chiari type I malformation Abnormality of extrapyramidal motor function Hypotelorism Recurrent fungal infections Cheilitis Bruising susceptibility Waddling gait Lichenification Sloping forehead Blue sclerae Abnormality of temperature regulation Abnormal vagina morphology Chronic mucocutaneous candidiasis Abnormal toenail morphology Abnormality of the mouth Hemoptysis Abnormality of blood and blood-forming tissues Abnormality of the immune system Abnormal endocardium morphology Onychomycosis Abnormality of dental enamel Myopia Pes planus Hernia Cardiomyopathy Gait disturbance Scarring Skeletal muscle atrophy Epicanthus Abnormal lip morphology Abnormality of the foot Muscle weakness Scoliosis Joint hypermobility Chronic oral candidiasis Broad nail Dyspareunia Abnormality of the fingernails Abnormality of the nail Clonus Hyperextensible skin Cytochrome C oxidase-negative muscle fibers Tethered cord Ecchymosis Episodic ataxia Abnormality of the retinal vasculature Easy fatigability Congenital muscular dystrophy Ethylmalonic aciduria Acrocyanosis Disproportionate tall stature Difficulty climbing stairs Atrophic scars Inguinal hernia Petechiae Neurodevelopmental delay Focal T2 hyperintense basal ganglia lesion Fever Meningitis Pruritus Recurrent urinary tract infections Inflammatory abnormality of the skin Epidermal acanthosis Hepatitis Abnormality of the skin Hematuria Lymphadenopathy Congenital hip dislocation Behavioral abnormality Papule Cough Severe muscular hypotonia Feeding difficulties in infancy Poor head control Recurrent respiratory infections Headache Neoplasm of the skin Upper limb undergrowth Short thumb Low-set ears Hydronephrosis Hepatosplenomegaly Thrombocytopenia Atrial septal defect Ventricular septal defect Intrauterine growth retardation Aplasia/Hypoplasia of the thymus Wide mouth Abnormality of the adrenal glands Abnormality of the gastrointestinal tract Osteomalacia Abnormality of the musculature Telangiectasia of the skin Steatorrhea Abnormality of the kidney Short philtrum Urticaria Pancytopenia Clitoral hypertrophy Patent foramen ovale Deep philtrum Situs inversus totalis Hydrops fetalis Hepatic fibrosis Coarctation of aorta Synophrys Oligohydramnios Asthma Abnormal bleeding Triangular face Thin vermilion border Cirrhosis Abnormality of dental morphology Polycystic ovaries Premature skin wrinkling Abnormality of skin pigmentation Striae distensae Erythroderma Melanoma Sparse scalp hair Overgrowth Abnormal blistering of the skin Leukemia Alopecia of scalp Postnatal growth retardation Carcinoma Hyperhidrosis Abnormality of the dentition Visual impairment Pain Severe vision loss Lamellar cataract Recurrent bacterial infections Micromelia Hyperpigmentation of the skin Lymphedema Gingival overgrowth Thickened skin Subcutaneous nodule Recurrent fractures Malabsorption Acrokeratosis Camptodactyly of finger Joint stiffness Coarse facial features Severe short stature Short neck Macrocephaly Brachydactyly Dextrocardia Biventricular hypertrophy Short palpebral fissure Abnormal myelination Reduced protein C activity Reduced antithrombin III activity Abnormal macular morphology Hypoglycosylation of alpha-dystroglycan Pontocerebellar atrophy Type I transferrin isoform profile Prolonged partial thromboplastin time Cleft palate Deep venous thrombosis Ankle contracture Weak cry Lower limb hyperreflexia Increased variability in muscle fiber diameter Flat occiput Reduced protein S activity Cryptorchidism Hemangioma Anal atresia Microdontia Growth hormone deficiency Hypodontia Delayed eruption of teeth Short foot Flat face Nail dystrophy Abnormality of the skeletal system Hip dislocation Corneal opacity Skeletal dysplasia Mandibular prognathia Glaucoma Microphthalmia Short nose Trigonocephaly Venous thrombosis Micronodular cirrhosis Downslanted palpebral fissures Gait ataxia Absent speech Cerebellar atrophy Intellectual disability, severe Respiratory distress Tremor Optic atrophy Elevated hepatic transaminase Nystagmus Abnormality of glutamine metabolism Increased serum bile acid concentration Abnormality of the clitoris Infra-orbital crease Functional respiratory abnormality EEG abnormality Camptodactyly Knee flexion contracture Nail dysplasia Truncal ataxia Cerebral visual impairment Postnatal microcephaly Progressive neurologic deterioration Intention tremor Febrile seizures Dental malocclusion Retinopathy Delayed myelination High, narrow palate Dysmetria Smooth philtrum Severe global developmental delay Prominent nasal bridge Abnormal pyramidal sign Aortic rupture


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