Generalized hypotonia, and Umbilical hernia

Diseases related with Generalized hypotonia and Umbilical hernia

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

Top matches:

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Other less relevant matches:

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

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

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

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Umbilical hernia

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Constipation Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Umbilical hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Scoliosis Joint laxity Muscular hypotonia Hypothyroidism Muscle weakness Seizures Abdominal distention Coarse facial features Jaundice Macroglossia

Rare Symptoms - Less than 30% cases

Congenital hypothyroidism Growth hormone deficiency Flexion contracture Ventricular septal defect Respiratory distress Atrial septal defect Blue sclerae Depressed nasal bridge Abnormal cardiac septum morphology Micrognathia Hoarse cry Wormian bones Gastroesophageal reflux Recurrent fractures Long palpebral fissure Joint hypermobility Wide nasal bridge Abnormal facial shape Growth delay Sleep disturbance Delayed speech and language development Large fontanelles Large posterior fontanelle Anteverted nares Hypertelorism Developmental regression Short columella Maternal diabetes Everted upper lip vermilion Premature rupture of membranes Portal hypertension Hyperlipoproteinemia Talipes equinovarus Kyphosis Cachexia Pes planus Hyperlordosis Hypercholesterolemia Hyperlipidemia Hip dislocation Osteoporosis Deep philtrum Foam cells Mandibular prognathia Vacuolated lymphocytes Low-grade fever Periportal fibrosis Esophageal varix Bone-marrow foam cells Adrenal calcification Acute hepatic failure Macrocephaly Hydrocephalus Polyhydramnios Narrow palpebral fissure Abnormality of lipid metabolism Blepharophimosis Thick eyebrow Protuberant abdomen Round face Steatorrhea Malnutrition Premature birth Overgrowth Tall stature Low-set ears Soft skin Joint hyperflexibility Broad forehead Absence seizures Hypoplastic left heart Cystic hygroma Double outlet right ventricle Tethered cord Motor delay Dysphagia Abnormality of the dentition Pneumonia Arachnodactyly Coarctation of aorta Bowing of the long bones Long eyelashes Disproportionate tall stature Femoral bowing Pathologic fracture Thin ribs Vertebral compression fractures Generalized osteoporosis Thin bony cortex Cerebral visual impairment Wide intermamillary distance Bruising susceptibility Hyperextensibility of the finger joints Osteoarthritis Congenital hip dislocation Joint dislocation Delayed gross motor development Hyperextensible skin Hallux valgus Atrophic scars Fragile skin Increased body weight Poor wound healing Pulmonic stenosis Excessive wrinkled skin Subcutaneous hemorrhage Hearing impairment Ptosis Epicanthus Optic atrophy Ventriculomegaly Blindness Patent ductus arteriosus Abnormality of the pinna Atherosclerosis Anemia Leukodystrophy Decreased fetal movement Abnormality of the skeletal system Respiratory insufficiency Areflexia Abnormal heart morphology Recurrent respiratory infections Respiratory failure Proximal muscle weakness Muscular hypotonia of the trunk Paralysis Tetraparesis Impulsivity Recurrent pneumonia Spinal muscular atrophy Axonal degeneration EMG: neuropathic changes Proximal amyotrophy Tongue fasciculations Decreased number of large peripheral myelinated nerve fibers Degeneration of anterior horn cells Proximal muscle weakness in lower limbs Skeletal muscle atrophy Short chin Intellectual disability, severe Hyperactivity Abnormality of the face Prolonged neonatal jaundice Microcephaly Spasticity Hypoplasia of the corpus callosum Behavioral abnormality Dystonia Cerebral atrophy Absent speech Autism Hip dysplasia Narrow mouth High forehead Thin upper lip vermilion Anxiety Autistic behavior Attention deficit hyperactivity disorder Prominent nasal bridge Poor speech Wide nose Tapered finger Fatigue Abnormality of metabolism/homeostasis Hepatic fibrosis Splenomegaly Thyroid agenesis Thyroid dysgenesis Thyroid hemiagenesis Failure to thrive Hypertension Hepatomegaly Fever Vomiting Diarrhea Weight loss Increased thyroid-stimulating hormone level Hepatosplenomegaly Scarring Malabsorption Cirrhosis Hepatic failure Hepatic steatosis Ascites Pulmonary arterial hypertension Hypertriglyceridemia Ectopic thyroid Thyroid hypoplasia Omphalocele Delayed skeletal maturation Wide anterior fontanel Intellectual disability, progressive Hypopituitarism Severe postnatal growth retardation Pituitary hypothyroidism Pseudohypoparathyroidism Narcolepsy Hypothalamic hypothyroidism Craniopharyngioma Carcinoma Hypothermia Feeding difficulties in infancy Lethargy Dry skin Abnormal vertebral morphology Bradycardia Hyperbilirubinemia Goiter Stridor Myotonia Spondyloepiphyseal dysplasia Biconcave vertebral bodies


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