Generalized hypotonia, and Small for gestational age

Diseases related with Generalized hypotonia and Small for gestational age

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

Top matches:

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B

Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH ), tyrosine hydroxylase (TH ) and tryptophan hydroxylase (TPH1 ), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001).HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (OMIM ), caused by mutation in the GCH1 gene (OMIM ), HPABH4C (OMIM ), caused by mutation in the QDPR gene (OMIM ), and HPABH4D (OMIM ), caused by mutation in the PCBD1 gene (OMIM ). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU ), caused by mutation in the PAH gene.Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (OMIM ), caused by mutation in the SPR gene (OMIM ), and autosomal dominant dopa-responsive dystonia (DYT5 ), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A Is also known as hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|pts deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

Other less relevant matches:

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME Is also known as myopathy, centronuclear, lethal, autosomal recessive|lethal congenital contracture syndrome type 5|lccs5

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Peripheral neuropathy
  • Respiratory insufficiency
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77 Is also known as spg77

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Small for gestational age

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Polyhydramnios Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Small for gestational age. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Growth delay Short stature Gait disturbance Intrauterine growth retardation Ataxia Flexion contracture Seizures

Rare Symptoms - Less than 30% cases

Fetal polyuria Hypokalemic hypochloremic metabolic alkalosis Hypochloremia Microcephaly Increased urinary potassium Hyperreflexia Tremor Postural instability Dystonia Muscular hypotonia of the trunk Hypokalemic metabolic alkalosis Bradykinesia Bulbous nose Poor suck Feeding difficulties Decreased fetal movement Hearing impairment Neonatal hypotonia Areflexia Myopathy Hypernatriuria Hyperchloriduria Decreased glomerular filtration rate Thick lower lip vermilion Intellectual disability, mild Deeply set eye Sensorineural hearing impairment Delayed speech and language development Abnormal facial shape Edema Prominent forehead Hypertelorism Renal insufficiency Scoliosis Hyporeflexia Premature birth Dehydration Hypokalemia Hypercalciuria Hyponatremia Polyuria Hyperaldosteronism Renal salt wasting Alkalosis Metabolic alkalosis Short foot Pulmonary hypoplasia Polyneuropathy Renal hypoplasia Peripheral demyelination Oligohydramnios Respiratory distress Renal dysplasia Postnatal growth retardation Primary testicular failure Hypertension Decreased serum testosterone level Elevated serum creatinine Premature ovarian insufficiency High pitched voice Truncal obesity Sparse body hair Increased circulating gonadotropin level Hypergonadotropic hypogonadism Visual impairment Abdominal obesity Gynecomastia Muscle weakness Pain Specific learning disability Decreased testicular size Progressive muscle weakness Micrognathia Abnormal renal corticomedullary differentiation Autistic behavior Intellectual disability, severe Hyperactivity Cerebral cortical atrophy Autism Macrotia Abnormality of the pinna Severe global developmental delay Vertebral fusion Febrile seizures Narrow forehead Eczema Hypotelorism Failure to thrive in infancy Hallux valgus Thickened helices Lower limb amyotrophy Abnormality of mitochondrial metabolism Strabismus Apnea Spasticity Ptosis Dysarthria Skeletal muscle atrophy Babinski sign Acidosis Retrognathia Spastic paraplegia Poor head control Paraplegia Dysmetria Metabolic acidosis Urinary incontinence Intention tremor Lower limb spasticity Cerebral palsy Small hand Camptodactyly Thin vermilion border Progressive neurologic deterioration Hydrops fetalis Nephrolithiasis Triangular face Stage 5 chronic kidney disease Protruding ear Fatigue Transient hyperphenylalaninemia Hyperphenylalaninemia Excessive salivation Excessive daytime somnolence Episodic fever Hypokinesia Intellectual disability, progressive Choreoathetosis Abnormality of extrapyramidal motor function Glomerulosclerosis Parkinsonism Irritability Abnormality of the nervous system Rigidity Hypertonia Dysphagia Abnormality of metabolism/homeostasis Long foot Dental crowding Broad nasal tip Intellectual disability, moderate Coarse facial features Kyphoscoliosis Abnormality of the skeletal system Nephrocalcinosis Polydipsia Hypogonadism Fetal akinesia sequence Delayed skeletal maturation Obesity Cryptorchidism Retinal hemorrhage Abnormal lower motor neuron morphology Centrally nucleated skeletal muscle fibers Thin ribs Congenital contracture Decreased nerve conduction velocity Elevated serum creatine phosphokinase Respiratory insufficiency Peripheral neuropathy Oval face Overlapping fingers Scaphocephaly Congenital sensorineural hearing impairment Reduced renal corticomedullary differentiation Abnormally large globe Tubulointerstitial fibrosis Hypokalemic alkalosis Mesangial hypercellularity Global glomerulosclerosis Hypochloremic metabolic alkalosis High palate Akinesia Dolichocephaly Arachnodactyly High, narrow palate Single transverse palmar crease Joint contracture of the hand Respiratory insufficiency due to muscle weakness Small earlobe


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