Muscular hypotonia, and Growth hormone deficiency

Diseases related with Muscular hypotonia and Growth hormone deficiency

In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Growth hormone deficiency that can help you solving undiagnosed cases.

Top matches:

Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22 Is also known as prepl deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22

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

Other less relevant matches:

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

Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25 Is also known as coxpd25

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25

Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|pituitary hormone deficiency, combined, with rigid cervical spine

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

Medium match IMAGE SYNDROME

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Growth hormone deficiency

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Growth hormone deficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Sensorineural hearing impairment Hearing impairment Hypothyroidism Hypertelorism Motor delay Micropenis Feeding difficulties Ptosis Low-set ears Failure to thrive Constipation Prominent forehead

Rare Symptoms - Less than 30% cases

Leukemia Hypopituitarism Pulmonic stenosis Pituitary hypothyroidism Congenital hypothyroidism Hoarse cry Wide nasal bridge Scoliosis Increased body weight Anteverted nares Short nose High forehead Abdominal distention Macrocephaly Nystagmus Cleft palate Frontal bossing Cerebellar hypoplasia Myopia Cryptorchidism Bilateral ptosis Panhypopituitarism Delayed speech and language development Hyperextensible skin Macroglossia Delayed skeletal maturation Jaundice Hypogonadism Narrow forehead Epicanthus Umbilical hernia Telecanthus Strabismus Abnormal facial shape Abnormal ventricular septum morphology Cardiomyopathy Hypercalcemia Hypercalciuria Downslanted palpebral fissures Edema Short long bone Bilateral cryptorchidism Intellectual disability, mild Abnormal heart morphology Hyperkeratosis Nephrocalcinosis Hypocalcemia Epiphyseal dysplasia Primary adrenal insufficiency Adrenal insufficiency Anterior pituitary hypoplasia Cyanosis Small nail Metaphyseal cupping Thoracic kyphosis Adrenocorticotropic hormone deficiency Gonadotropin deficiency Prolactin deficiency Metaphyseal dysplasia Abnormal anterior horn cell morphology Adrenal hypoplasia Thoracolumbar kyphoscoliosis Pituitary dwarfism Lumbar kyphosis Hypothalamic luteinizing hormone-releasing hormone deficiency Hypertrophic cardiomyopathy Bilateral sensorineural hearing impairment Abnormality of the genital system Acute lymphoblastic leukemia Lymphoma Carious teeth Optic nerve hypoplasia Absent eyebrow Abnormality of the sternum Hydronephrosis Hypospadias Hyperhidrosis Heat intolerance Intrauterine growth retardation B-cell lymphoma Abnormal aortic valve morphology Multiple lentigines Abnormality of lateral ventricle Congenital cataract Hypoplasia of the corpus callosum Micromelia Cafe-au-lait spot Muscular dystrophy Sparse hair Broad forehead Craniosynostosis Respiratory tract infection Webbed neck Relative macrocephaly Cataract Curly hair Broad neck Asymmetry of the thorax Long eyebrows Juvenile myelomonocytic leukemia Postnatal growth retardation Neoplasm Joint hypermobility Recurrent infections Hyperlordosis Intellectual disability, progressive Abnormality of metabolism/homeostasis Coarse facial features Sleep disturbance Omphalocele Large fontanelles Wide anterior fontanel Severe postnatal growth retardation Fatigue Pseudohypoparathyroidism Narcolepsy Hypothalamic hypothyroidism Craniopharyngioma Carcinoma Feeding difficulties in infancy Lethargy Intellectual disability, severe Cystinuria Abnormal vertebral morphology Delayed myelination Microcephaly Cognitive impairment Ventriculomegaly Behavioral abnormality Upslanted palpebral fissure Hyperactivity Aggressive behavior Esotropia Tented upper lip vermilion Neurodevelopmental delay Muscle weakness Dysarthria Neonatal hypotonia Facial palsy Waddling gait Hypergonadotropic hypogonadism Dry skin Bradycardia Skeletal dysplasia Molar tooth sign on MRI Ataxia Cleft lip Apraxia Oculomotor apraxia Tachypnea Cone/cone-rod dystrophy Recurrent upper respiratory tract infections Central hypothyroidism Preeclampsia Ectopic posterior pituitary Inferior vermis hypoplasia Abnormality of the skeletal system Short neck Myopathy Kyphosis Severe short stature Intraventricular hemorrhage Pectus carinatum Hyperbilirubinemia Ectopic thyroid Goiter Stridor Myotonia Spondyloepiphyseal dysplasia Hypothermia Thyroid hypoplasia Increased thyroid-stimulating hormone level Thyroid agenesis Gastroesophageal reflux Large posterior fontanelle Thyroid dysgenesis Thyroid hemiagenesis Cerebellar atrophy Long philtrum Dilatation Cerebral atrophy Congenital adrenal hypoplasia


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