Motor delay, and Small for gestational age

Diseases related with Motor delay and Small for gestational age

In the following list you will find some of the most common rare diseases related to Motor delay 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

Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR Is also known as hyperthyroidism, nonautoimmune, autosomal dominant|toxic thyroid hyperplasia, autosomal dominant|familial non-immune hyperthyroidism|resistance to thyroid stimulating hormone|hyperthyroidism, congenital nonautoimmune

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Motor delay
  • Diarrhea


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR

Other less relevant matches:

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

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

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6

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

Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

SECKEL SYNDROME 2; SCKL2 Is also known as microcephalic primordial dwarfism 2|seckel-type dwarfism 2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 2; SCKL2

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.

DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Is also known as srd|spr deficiency|drd due to srd|sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient drd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Motor delay and Small for gestational age

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Hyperreflexia Premature birth Muscular hypotonia Delayed speech and language development

Rare Symptoms - Less than 30% cases

Muscle weakness Irritability Proptosis Sleep disturbance Agitation Seizures Athetosis Ataxia Talipes equinovarus Tremor Gait disturbance Hypertonia Dystonia Rigidity Muscular hypotonia of the trunk Spasticity Pain Postural instability Parkinsonism Bradykinesia Abnormality of extrapyramidal motor function Progressive neurologic deterioration Choreoathetosis Intellectual disability, progressive Excessive salivation Hyperphenylalaninemia Transient hyperphenylalaninemia Hearing impairment Cerebellar hypoplasia Flexion contracture Hyperactivity Nystagmus Hypokalemic hypochloremic metabolic alkalosis Dehydration Metabolic alkalosis Alkalosis Renal salt wasting Hyperaldosteronism Polyuria Hypercalciuria Hypokalemia Polyhydramnios Hypokalemic metabolic alkalosis Hyporeflexia Abnormality of metabolism/homeostasis Renal insufficiency Edema Sensorineural hearing impairment Failure to thrive Intellectual disability, moderate Decreased glomerular filtration rate Hyponatremia Prominent forehead Hypernatriuria Hypochloremia Increased urinary potassium Fetal polyuria Hyperchloriduria Brain atrophy Agenesis of corpus callosum Multiple joint contractures Macrotia Scoliosis Prominent nasal bridge Generalized myoclonic seizures Hypoplasia of the brainstem Clinodactyly of the 5th finger Sloping forehead Intellectual disability, severe Tetraparesis Pachygyria Knee flexion contracture Poor head control Spastic tetraplegia Abnormality of the skeletal system Hydrocephalus Ectopic kidney Abnormal facial shape Few cafe-au-lait spots Mild global developmental delay Microglossia High pitched voice Hypertelorism Self-mutilation Hypoplasia of the corpus callosum Heart murmur Ventriculomegaly Cafe-au-lait spot Narrow forehead Microdontia Prominent nose Skeletal muscle atrophy Generalized amyotrophy Aggressive behavior Profound global developmental delay Drowsiness Muscle stiffness Abnormal autonomic nervous system physiology Oculomotor apraxia Cerebral palsy Drooling Hyperkinesis Postural tremor Limb hypertonia Truncal ataxia Generalized dystonia Hypomimic face Abnormality of the nose Abnormality of the tongue Hypersomnia Excessive daytime sleepiness Oculogyric crisis Horizontal nystagmus Clonus Hydranencephaly Hyperhidrosis Severe hydrocephalus Ptosis Cognitive impairment Dysarthria Behavioral abnormality Babinski sign Myoclonus Anxiety Involuntary movements Microphthalmia Abnormal pyramidal sign Abnormality of eye movement Abnormality of movement Poor speech Dyskinesia Apraxia Hypospadias Hypertension Micrognathia Fatigue Episodic fever Excessive daytime somnolence Long foot Dental crowding Thick lower lip vermilion Broad nasal tip Protruding ear Poor suck Stage 5 chronic kidney disease Triangular face Nephrolithiasis Hydrops fetalis Nephrocalcinosis Glomerulosclerosis Polydipsia Hypokinesia Abnormality of the nervous system Abnormally large globe Hand tremor Diarrhea Weight loss Tachycardia Accelerated skeletal maturation Tachypnea Goiter Hyperthyroidism Autoimmune antibody positivity Dysphagia Graves disease Abnormal eye morphology Thyroid hyperplasia Thyrotoxicosis with diffuse goiter Eyelid retraction Activating thyroid-stimulating hormone receptor defect Pretibial myxedema Congenital sensorineural hearing impairment Tubulointerstitial fibrosis Abnormal renal corticomedullary differentiation Postnatal growth retardation Kyphoscoliosis Intellectual disability, mild Feeding difficulties Visual impairment Intrauterine growth retardation Respiratory distress Pulmonary hypoplasia Tiger tail banding Polyneuropathy Peripheral demyelination Oligohydramnios Renal hypoplasia Renal dysplasia Progressive muscle weakness Elevated serum creatinine Coarse facial features Mild intrauterine growth retardation Hypokalemic alkalosis Ichthyosis Mesangial hypercellularity Global glomerulosclerosis Hypochloremic metabolic alkalosis Reduced renal corticomedullary differentiation Delayed skeletal maturation Pes cavus Dry skin Microcornea Long-tract signs Esotropia Bilateral sensorineural hearing impairment Broad-based gait Coxa valga Brittle hair Coronal craniosynostosis Slow-growing hair Temperature instability


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Stroke, related diseases and genetic alterations