Feeding difficulties, and Cough

Diseases related with Feeding difficulties and Cough

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

Top matches:

Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.

SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS Is also known as escc|esophageal epidermoid carcinoma|esophageal squamous cell carcinoma

Related symptoms:

  • Feeding difficulties in infancy
  • Cough
  • Nausea and vomiting
  • Lymphadenopathy
  • Chest pain


SOURCES: ORPHANET MENDELIAN

More info about SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.

ADENOCARCINOMA OF THE ESOPHAGUS Is also known as esophageal adenocarcinoma|barrett metaplasia

Related symptoms:

  • Dysphagia
  • Obesity
  • Gastroesophageal reflux
  • Feeding difficulties in infancy
  • Cough


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ADENOCARCINOMA OF THE ESOPHAGUS

Isolated hyperchlorhidrosis is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by Muhammad et al., 2011).

Related symptoms:

  • Failure to thrive
  • Feeding difficulties
  • Dilatation
  • Abnormality of metabolism/homeostasis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about HYPERCHLORHIDROSIS, ISOLATED; HYCHL

Other less relevant matches:

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated|cardiomyopathy, familial dilated, 1|cmpd1|familial or idiopathic dilated cardiomyopathy|fdc

Related symptoms:

  • Sensorineural hearing impairment
  • Feeding difficulties
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.

CEREBROCOSTOMANDIBULAR SYNDROME Is also known as rib gap defects with micrognathia

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CEREBROCOSTOMANDIBULAR SYNDROME

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome, type ii|ogs2|opitz-frias syndrome|opitz gbbb syn

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

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

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Feeding difficulties in infancy Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Gastroesophageal reflux Generalized hypotonia Growth delay Respiratory insufficiency Scoliosis Edema Intellectual disability Seizures Nausea and vomiting Lymphadenopathy

Rare Symptoms - Less than 30% cases

Vomiting Motor delay Muscle weakness Constipation Abnormality of eye movement Osteopenia Inguinal hernia Hernia Intrauterine growth retardation Agenesis of corpus callosum Respiratory distress Hypertension Oral-pharyngeal dysphagia Megalencephaly Recurrent urinary tract infections Abnormality of the eye Recurrent respiratory infections Hyperreflexia Anal stenosis Tracheomalacia Muscular hypotonia Cerebral calcification Conductive hearing impairment Posteriorly rotated ears Patent ductus arteriosus Hypospadias Kyphosis Atrial septal defect Ventricular septal defect Cognitive impairment Respiratory failure Cleft palate Micrognathia Recurrent infections Pulmonary hypoplasia Hyperlordosis Facial palsy Polyhydramnios Frontal bossing Hyporeflexia Epicanthus Myopathy Dilatation Congestive heart failure Ventriculomegaly Chest pain Dilated cardiomyopathy Tachypnea Clinodactyly of the 5th toe Esophageal carcinoma Hyperkeratosis Cardiomyopathy Absent uvula Sleep apnea Dysphasia Emotional lability Abnormality of the voice Self-injurious behavior Precocious puberty Encephalitis Dysphonia Leukoencephalopathy Progressive spasticity Abnormal autonomic nervous system physiology Muscle stiffness Leukodystrophy Clonus Diplopia Peripheral demyelination Amenorrhea Bowel incontinence Muscle fibrillation Chorea Hypersomnia Hyperpigmented nevi Recurrent singultus Pierre-Robin sequence Progressive macrocephaly Myelomeningocele Pseudobulbar signs Large face Aqueductal stenosis Atrophy/Degeneration affecting the brainstem Bulbar signs Hypothermia Missing ribs 11 pairs of ribs Poor coordination Increased CSF protein Drowsiness Hypotension Gliosis Absent soft palate Nystagmus Tremor Macrocephaly Dysarthria Ptosis Spasticity Mandibular aplasia Esophagitis Ataxia Obesity Paradoxical respiration Rib gap Short hard palate Posterior rib gap Calcaneal epiphyseal stippling Anomalous rib insertion to vertebrae Anomalous tracheal cartilage Gait disturbance Short neck Sudden cardiac death Developmental regression Tetraplegia Cleft soft palate Sleep disturbance Dysmetria Microcoria Neurological speech impairment Abnormal pyramidal sign EEG abnormality Hydrocephalus Hypothyroidism Weight loss Diabetes mellitus Hyperhidrosis Dementia Porencephalic cyst Hydranencephaly Depressivity Abnormality of the cerebral white matter Behavioral abnormality Diffuse demyelination of the cerebral white matter Weak cry Abnormality of the respiratory system Bilateral cleft lip and palate Diastasis recti Bilateral cleft lip Hiatus hernia Prominent metopic ridge Abnormality of the ureter Limb dystonia Prominent occiput Widow's peak Rocker bottom foot Tracheoesophageal fistula Bifid scrotum Stridor Abnormality of the urinary system Recurrent upper respiratory tract infections Laryngomalacia Anosmia Enlarged cisterna magna Concave nasal ridge Hoarse voice Aplasia/Hypoplasia of the cerebellar vermis Rectourethral fistula Posterior pharyngeal cleft Rectal atresia Vascular ring Laryngeal cleft Short lingual frenulum Hypoplasia of the epiglottis Hoarse cry Cranial asymmetry Bicornuate uterus Absent gallbladder Metopic synostosis Unilateral cleft lip Inspiratory stridor Ankyloglossia Dilated fourth ventricle Cavum septum pellucidum Sagittal craniosynostosis Cardiac arrest Aortic valve stenosis Bell-shaped thorax Dystonia Umbilical hernia Micropenis Cerebral cortical atrophy Prominent forehead Rod-cone dystrophy Abnormal heart morphology Abnormality of cardiovascular system morphology Intellectual disability, mild Anteverted nares Hydronephrosis Downslanted palpebral fissures Wide nasal bridge Depressed nasal bridge Cryptorchidism Abnormal facial shape Strabismus Hypertelorism Hearing impairment Thin upper lip vermilion Telecanthus Aspiration Iris coloboma Cerebellar vermis hypoplasia Pulmonary arterial hypertension Coarctation of aorta Dandy-Walker malformation Intestinal malrotation Vesicoureteral reflux Bifid uvula High, narrow palate Cleft upper lip Cleft lip Oral cleft Smooth philtrum Anal atresia Prominent nasal bridge Abnormal cardiac septum morphology Coloboma Craniosynostosis Abnormality of the kidney Meningocele Anteriorly placed anus Glossoptosis Elevated hepatic transaminase Oligohydramnios Ascites Hepatic steatosis Cirrhosis Palmoplantar keratoderma Abnormality of the liver Joint laxity Deeply set eye Cholestasis Hypoglycemia Syncope Palpitations EMG abnormality Cerebral atrophy Ventricular arrhythmia Palmoplantar hyperkeratosis Congenital sensorineural hearing impairment Pancytopenia Abnormal lung morphology Anemia Small scrotum Pectus excavatum Hypertonia Arrhythmia Abnormality of the skeletal system Elevated serum creatine phosphokinase Dyspnea Flexion contracture Stroke Vitamin A deficiency Decreased liver function Anasarca Vitamin D deficiency Bile duct proliferation Interstitial pulmonary abnormality Rickets Portal hypertension Hypoalbuminemia Hypocalcemia Lipoatrophy Thromboembolism Pes cavus Abnormality of the skin Meningitis Skin ulcer Abnormality of neutrophils Inflammatory abnormality of the skin Epidermal acanthosis Hepatitis Eczema Hematuria Abnormality of dental enamel Pruritus Papule Skin rash Erythema Impaired myocardial contractility Diffuse palmoplantar hyperkeratosis Fever Headache Abnormality of the nail Abnormality of the fingernails Severe sensorineural hearing impairment Recurrent fungal infections Abnormal left ventricle morphology Chronic oral candidiasis Broad nail Dyspareunia Abnormal lip morphology Onychomycosis Abnormality of temperature regulation Abnormal endocardium morphology Cheilitis Abnormality of vision Lichenification 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 Areflexia Retrognathia Barrett esophagus Hyperkalemia Infertility Malar flattening Long philtrum Dehydration Abnormality of the dentition Bronchiectasis Hyponatremia Hyperaldosteronism Clinodactyly of the 5th finger Low-set ears Renal salt wasting Pseudohypoaldosteronism Microcephaly Short stature Elevated sweat chloride Late-onset distal muscle weakness Percussion myotonia Scarring Abnormality of metabolism/homeostasis Diaphragmatic paralysis Multicystic kidney dysplasia Esophageal ulceration Short humerus Immunodeficiency Thoracic hypoplasia Ectopic kidney Neonatal respiratory distress Nasal speech Atresia of the external auditory canal Horseshoe kidney Postnatal growth retardation Congenital hip dislocation Elbow flexion contracture Spina bifida Omphalocele Abnormality of the ribs Webbed neck Renal cyst Narrow chest Fetal distress Neck flexor weakness Rigidity Genu valgum Joint contracture of the hand Frequent falls Decreased fetal movement Waddling gait Generalized muscle weakness Sensorineural hearing impairment Falls Limb muscle weakness Foot dorsiflexor weakness Arthrogryposis multiplex congenita Paralysis Respiratory tract infection Fatigue Apnea Hypertrophic cardiomyopathy Proximal muscle weakness Neonatal hypotonia Narrow face Knee flexion contracture Slender build Spinal rigidity Breech presentation Type 1 muscle fiber predominance Nemaline bodies Fetal akinesia sequence Facial diplegia EMG: neuropathic changes Hypoventilation Thin ribs Bulbar palsy Respiratory insufficiency due to muscle weakness Mildly elevated creatine phosphokinase Myopathic facies Mask-like facies Myotonia Akinesia Congenital contracture EMG: myopathic abnormalities Infantile muscular hypotonia Absent pulmonary artery


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