Delayed speech and language development, and Small for gestational age

Diseases related with Delayed speech and language development and Small for gestational age

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


Top matches:

High match MENTAL RETARDATION, X-LINKED 19; MRX19

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
  • Pica
  • Scoliosis


SOURCES: UMLS MONDO MESH OMIM

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

High match HYPERTHYROIDISM, NONAUTOIMMUNE

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.

HYPERTHYROIDISM, NONAUTOIMMUNE Is also known as hyperthyroidism, congenital nonautoimmune, hyperthyroidism, nonautoimmune, autosomal dominant, toxic thyroid hyperplasia, autosomal dominant;familial non-immune hyperthyroidism; resistance to thyroid stimulating hormone

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Motor delay
  • Ptosis


SOURCES: UMLS MESH MONDO ORPHANET OMIM GARD

More info about HYPERTHYROIDISM, NONAUTOIMMUNE

High match DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

SPR deficiency results in neurologic deterioration due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Clinically, affected individuals show an L-DOPA-responsive, diurnally fluctuating movement disorder usually associated with cognitive delay and severe neurologic dysfunction. BH4 is a required cofactor for the synthesis of the neurotransmitters dopamine and serotonin. BH4 is also a required cofactor for phenylalanine hydroxylase (PAH ), but patients with SPR deficiency do not exhibit overt hyperphenylalaninemia. The lack of hyperphenylalaninemia distinguishes SPR deficiency from other disorders of BH4 synthesis (see, e.g., HPABH4A, {261640}). However, the neurologic phenotype of SPR deficiency resembles the other BH4-deficient disorders (summary by Bonafe et al., 2001 and Friedman et al., 2012).Another form of dopa-responsive dystonia (DTY5 ) is caused by mutation in the gene encoding GTP cyclohydrolase I (GCH1 ), which is also a component of the biopterin synthetic pathway.

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

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: UMLS DOID SCTID ORPHANET MONDO MESH OMIM GARD

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

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;hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: NCIT OMIM ORPHANET MONDO DOID MESH GARD UMLS

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

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly


SOURCES: UMLS ORPHANET OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

High match LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3

Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: GARD DOID ORPHANET MONDO OMIM UMLS MESH

More info about LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS MONDO OMIM MESH

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MESH MONDO OMIM DOID UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26 Is also known as ;asd due to auts2 deficiency; auts2 syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS OMIM ORPHANET MONDO DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26

Medium match MEIER-GORLIN SYNDROME 6; MGORS6

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Strabismus


SOURCES: UMLS MONDO OMIM

More info about MEIER-GORLIN SYNDROME 6; MGORS6

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Small for gestational age

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Delayed speech and language development and Small for gestational age. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Motor delay

Uncommon Symptoms - Between 30% and 50% cases


Autosomal dominant inheritance Muscular hypotonia of the trunk Spasticity Failure to thrive Ptosis Hyperreflexia Feeding difficulties Dystonia Autosomal recessive inheritance Short stature Hypertelorism Hyperactivity Pica Intellectual disability, severe Scoliosis Ataxia Growth delay Micrognathia Hypertonia Strabismus Rigidity Short philtrum Microretrognathia Gait disturbance Clonus Abnormal pyramidal sign Myoclonus

Rare Symptoms - Less than 30% cases


Hyperphenylalaninemia Oculogyric crisis Excessive salivation Hypsarrhythmia Progressive neurologic deterioration Drowsiness Cerebral palsy Choreoathetosis Abnormality of extrapyramidal motor function Transient hyperphenylalaninemia Eczema Intrauterine growth retardation Abnormal facial shape Thick vermilion border Downslanted palpebral fissures Prominent nasal tip Short palpebral fissure Highly arched eyebrow Retrognathia Short nose Depressed nasal bridge Low-set ears Cryptorchidism Cleft palate Autism Underdeveloped nasal alae Thick eyebrow Smooth philtrum Telecanthus Arthrogryposis multiplex congenita Absent speech Hypotelorism Parkinsonism Autistic behavior Severe global developmental delay Abnormality of the pinna Bradykinesia Flexion contracture Sleep disturbance Tremor Agitation Coarse facial features Nystagmus Kyphoscoliosis Premature birth Thick lower lip vermilion Dysarthria Infantile onset Prominent forehead Prominent nose Synophrys Sporadic Neurological speech impairment Thin vermilion border Downturned corners of mouth Wide nose Intellectual disability, moderate Round face Bifid uvula Absence seizures Thin upper lip vermilion Prominent nasal bridge Sparse hair Widely spaced teeth Long nose Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Weight loss Protruding ear Broad nasal tip Narrow face Diarrhea Progressive microcephaly Short chin Phimosis Brisk reflexes Achilles tendon contracture Thick upper lip vermilion Abnormality of metabolism/homeostasis Esotropia Long face Agenesis of corpus callosum Edema Long foot Dental crowding X-linked dominant inheritance Long upper lip Hypoplasia of the corpus callosum Proptosis Long philtrum Epicanthus Abnormality of eye movement Intellectual disability, mild Laryngomalacia Microtia Delayed puberty Single transverse palmar crease Delayed myelination Hip dysplasia Growth hormone deficiency Lumbar hyperlordosis Depressed nasal ridge Short phalanx of finger Sandal gap Short middle phalanx of finger Respiratory tract infection Emphysema Cortical gyral simplification Tracheomalacia Stenosis of the external auditory canal Hypoplastic labia majora Patellar aplasia Entropion Bronchomalacia Subglottic stenosis Tracheobronchomalacia Hyperlordosis Umbilical hernia Macrocephaly Wide nasal base Blepharophimosis Abnormality of the skeletal system Kyphosis Abnormality of cardiovascular system morphology Brachycephaly Narrow mouth Oxycephaly Wide mouth Poor speech Tics Decreased palmar creases Conductive hearing impairment Hearing impairment Frontal bossing Anteverted nares Midface retrusion Delayed skeletal maturation Hernia Recurrent respiratory infections Posteriorly rotated ears Severe short stature Gastroesophageal reflux Atrial septal defect Elevated serum creatine phosphokinase Postnatal growth retardation Hypokinesia Falls Postural instability Chorea Cognitive impairment Muscle weakness Intellectual disability, progressive Poor suck Poor head control Opisthotonus Ketonuria Irritability Episodic fever Restlessness Hyperkinesis Excessive daytime somnolence Pretibial myxedema Activating thyroid-stimulating hormone receptor defect Eyelid retraction Thyrotoxicosis with diffuse goiter Cerebral cortical atrophy Macrotia Pallor Abnormality of the nervous system Graves disease Drooling Abnormality of movement Apraxia Aggressive behavior Athetosis Hyperhidrosis Truncal ataxia Horizontal nystagmus Babinski sign Oculomotor apraxia Postural tremor Depressivity Generalized dystonia Behavioral abnormality Limb hypertonia Hypomimic face Abnormality of the nose Talipes equinovarus Temperature instability Muscular hypotonia Dysphagia Pain Thyroid hyperplasia Deeply set eye Pes cavus Rotary nystagmus Spastic paraparesis Paraparesis Spastic tetraparesis CNS hypomyelination Decreased muscle mass Global brain atrophy Ankle clonus Severe failure to thrive Corpus callosum atrophy Progressive spastic paraparesis Tetraparesis Progressive flexion contractures Projectile vomiting Rapid neurologic deterioration Sudanophilic leukodystrophy Diffuse cerebral sclerosis Tachycardia Myopathy Wide nasal bridge Abnormality of the dentition Dyskinesia Leukodystrophy Neuronal loss in central nervous system Hand tremor Goiter Hyperthyroidism Bulbous nose Febrile seizures Tachypnea Narrow forehead Failure to thrive in infancy Hallux valgus Thickened helices Small earlobe Visual impairment Brain atrophy Arrhythmia Cerebral atrophy Vomiting Progressive Accelerated skeletal maturation EEG abnormality Polymicrogyria Gliosis Death in infancy Focal seizures Nasogastric tube feeding



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Umbilical hernia, related diseases and genetic alterations Dysarthria and Tachycardia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more