Feeding difficulties, and Umbilical hernia

Diseases related with Feeding difficulties and Umbilical hernia

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

Top matches:

Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.

Related symptoms:

  • Muscular hypotonia
  • Feeding difficulties
  • Constipation
  • Hypothyroidism
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about PERIPHERAL RESISTANCE TO THYROID HORMONES

Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

Related symptoms:

  • Muscular hypotonia
  • Feeding difficulties
  • Constipation
  • Hypothyroidism
  • Umbilical hernia


SOURCES: ORPHANET MENDELIAN

More info about HYPOTHYROIDISM DUE TO TSH RECEPTOR MUTATIONS

Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.

RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME Is also known as trh resistance syndrome|central hypothyroidism due to trh receptor deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME

Other less relevant matches:

Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY Is also known as isolated thyrotropin deficiency|thyrotropin deficiency, isolated|pituitary cretinism|isolated tsh deficiency|tsh deficiency|thyroid-stimulating hormone deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Depressed nasal bridge
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED

Top 5 symptoms//phenotypes associated to Feeding difficulties and Umbilical hernia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Constipation Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Hypothyroidism Common - Between 50% and 80% cases
Macroglossia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Jaundice Sleep disturbance Abdominal distention Large fontanelles Hernia Global developmental delay Coarse facial features Abnormality of the face Hoarse cry Abnormal facial shape Intellectual disability Fatigue Seizures

Rare Symptoms - Less than 30% cases

Respiratory distress Ventriculomegaly Pulmonic stenosis Coarctation of aorta Stridor Congenital hypothyroidism Growth hormone deficiency Tapered finger Hypoplasia of the corpus callosum Subglottic stenosis Dry skin Growth delay Hypertelorism Short stature Large posterior fontanelle Aortic valve stenosis Bronchiectasis Joint hyperflexibility Full cheeks Ventricular hypertrophy Mitral regurgitation Cutis laxa Hoarse voice Aortic regurgitation Dyspnea Venous thrombosis Systemic lupus erythematosus Redundant skin Skin rash Inguinal hernia Atonic seizures Respiratory failure Heart murmur Dilatation Renal insufficiency Tethered cord Double outlet right ventricle Cystic hygroma Hypoplastic left heart Absence seizures Cerebral visual impairment Wide intermamillary distance Hydrocele testis Aortic aneurysm CNS hypomyelination Broad thumb Bowel diverticulosis Short palm Bulbous nose Abnormality of the cerebral white matter Severe global developmental delay Wide mouth EEG abnormality Myoclonus Horizontal nystagmus Hyporeflexia Areflexia Strabismus Nystagmus Repeated pneumothoraces Aortic rupture Uterine prolapse Emphysema Developmental regression Upper airway obstruction Premature skin wrinkling Right ventricular hypertrophy Bicuspid aortic valve Raynaud phenomenon Aortic dissection Heart block Pulmonary artery stenosis Aortic root aneurysm Prematurely aged appearance Mutism Abnormal heart valve morphology Infantile spasms Abnormality of the pinna Hypothermia Patent ductus arteriosus Hyperactivity Impulsivity Short chin Hip dysplasia Wide nose Poor speech Prominent nasal bridge Attention deficit hyperactivity disorder Autistic behavior Anxiety Thin upper lip vermilion Gastroesophageal reflux High forehead Narrow mouth Autism Absent speech Intellectual disability, severe Cerebral atrophy Dystonia Behavioral abnormality Anteverted nares Wide nasal bridge Delayed speech and language development Spasticity Muscle weakness Microcephaly Septo-optic dysplasia Central hypothyroidism Abnormality of the hypothalamus-pituitary axis Oral cleft Prolonged neonatal jaundice Depressed nasal bridge Abnormality of metabolism/homeostasis Blindness Hyperbilirubinemia Optic atrophy Epicanthus Flexion contracture Ptosis Hearing impairment Thyroid hemiagenesis Thyroid dysgenesis Thyroid agenesis Ectopic thyroid Increased thyroid-stimulating hormone level Thyroid hypoplasia Spondyloepiphyseal dysplasia Myotonia Goiter Bradycardia Omphalocele Abnormal vertebral morphology Lethargy Feeding difficulties in infancy Carcinoma Delayed skeletal maturation Craniopharyngioma Hypothalamic hypothyroidism Narcolepsy Pseudohypoparathyroidism Pituitary hypothyroidism Severe postnatal growth retardation Hypopituitarism Intellectual disability, progressive Wide anterior fontanel Broad jaw


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