Delayed speech and language development, and Hyperhidrosis

Diseases related with Delayed speech and language development and Hyperhidrosis

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


Top matches:

Medium match HYPOTRICHOSIS 12; HYPT12

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Alopecia
  • Hyperhidrosis
  • Abnormality of the nervous system


SOURCES: MONDO DOID OMIM UMLS

More info about HYPOTRICHOSIS 12; HYPT12

Medium match EPISODIC ATAXIA TYPE 1

Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Motor delay
  • Delayed speech and language development
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET

More info about EPISODIC ATAXIA TYPE 1

Medium match SEGAWA SYNDROME, AUTOSOMAL RECESSIVE

Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive dystonia. There are 2 main phenotypes: one is a severe complex encephalopathy apparent in the perinatal period, with diurnal fluctuations and autonomic disturbances, and the other shows a less severe course with onset in the first year of life of a progressive hypokinetic-rigid syndrome and generalized dystonia. The less severe type shows a better response to levodopa compared to the more severe type (summary by Stamelou et al., 2012).See also infantile parkinsonism-dystonia syndrome (OMIM ), caused by mutation in the SLC6A3 gene (OMIM ).

SEGAWA SYNDROME, AUTOSOMAL RECESSIVE Is also known as parkinsonism, infantile, autosomal recessive, dystonia, dopa-responsive, autosomal recessive, dopa-responsive dystonia, autosomal recessive, tyrosine hydroxylase deficiency;autosomal recessive segawa syndrome; dyt5b; tyrosine hydroxylase deficiency; tyrosine hydroxylase-deficient dopa-responsive dystonia

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Pica
  • Ataxia
  • Motor delay


SOURCES: OMIM ORPHANET

More info about SEGAWA SYNDROME, AUTOSOMAL RECESSIVE

Mendelian

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

Learn more

Other less relevant matches:

Medium match ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (OMIM ), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013).See also {300858} for a phenotypically similar disorder that shows X-linked inheritance.

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM UMLS GARD MONDO

More info about ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

Medium 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

Medium match TYROSINEMIA, TYPE II; TYRSN2

Tyrosinemia type II is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992).

TYROSINEMIA, TYPE II; TYRSN2 Is also known as richner-hanhart syndrome, tyrosine aminotransferase deficiency, tat deficiency, tyrosine transaminase deficiency, keratosis palmoplantaris with corneal dystrophy, oregon type tyrosinemia, tyrosinosis, oculocutaneous type;keratosis palmoplantaris-corneal dystrophy syndrome; oculocutaneous tyrosinemia; richner-hanhart syndrome; tyrosinemia due to tat deficiency; tyrosinemia due to tyrosine aminotransferase deficiency; tyrosinemia type ii

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Pica
  • Microcephaly


SOURCES: NCIT DOID MONDO OMIM GARD SCTID ORPHANET

More info about TYROSINEMIA, TYPE II; TYRSN2

Medium match NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES; NDMSBA

NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).

Related symptoms:

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


SOURCES: OMIM UMLS

More info about NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES; NDMSBA

Medium match SCHAAF-YANG SYNDROME; SHFYNG

SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

SCHAAF-YANG SYNDROME; SHFYNG Is also known as prader-willi-like syndrome;pwls;pws due to a point mutation; schaaf-yang syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET UMLS MONDO GARD

More info about SCHAAF-YANG SYNDROME; SHFYNG

Medium match CAREY-FINEMAN-ZITER SYNDROME; CFZS

Carey-Fineman-Ziter syndrome (CFZS) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. More variable features include dysmorphic facial features, brain abnormalities, and intellectual disability. It has been postulated that many clinical features in CFZS may be secondary effects of muscle weakness during development or brainstem anomalies (summary by Pasetti et al., 2016).Di Gioia et al. (2017) determined that CFZS represents a slowly progressive congenital myopathy resulting from a defect in myoblast fusion.

CAREY-FINEMAN-ZITER SYNDROME; CFZS Is also known as myopathy, congenital nonprogressive, with moebius sequence and robin sequence;myopathy-moebius-robin syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS ORPHANET SCTID DOID GARD MESH MONDO OMIM

More info about CAREY-FINEMAN-ZITER SYNDROME; CFZS

Medium match GLASS SYNDROME; GLASS

Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor (summary by Glass et al., 1989; Urquhart et al., 2009; Rainger et al., 2014).

GLASS SYNDROME; GLASS Is also known as chromosome 2q32-q33 deletion syndrome;2q32-q33 microdeletion syndrome; del(2)(q32); del(2)(q32q33); monosomy 2q32; monosomy 2q32-q33; monosomy 2q32q33

Related symptoms:

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


SOURCES: OMIM ORPHANET GARD DOID UMLS MONDO SCTID MESH

More info about GLASS SYNDROME; GLASS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Hyperhidrosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Delayed speech and language development and Hyperhidrosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Talipes equinovarus Ptosis Seizures Microcephaly Excessive salivation Flexion contracture Nystagmus Spasticity Growth delay Micrognathia Autosomal dominant inheritance Motor delay Respiratory distress Respiratory insufficiency Abnormality of extrapyramidal motor function Talipes Absent speech Dysphagia Retrognathia Anteverted nares Muscular hypotonia of the trunk Rigidity High palate Brachydactyly Short nose Strabismus Muscular hypotonia Cleft palate Short stature Smooth philtrum Behavioral abnormality Tremor Sleep disturbance Nevus Ataxia Pica Infantile onset Dysarthria Scoliosis

Rare Symptoms - Less than 30% cases


Hypomimic face Oxycephaly Macrocephaly Oculogyric crisis Cryptorchidism Camptodactyly Poor suck Long philtrum Autism Gait disturbance Abnormal pyramidal sign Hyperkeratosis Thick eyebrow Aggressive behavior Hyperactivity Choreoathetosis Intellectual disability, profound Polyhydramnios Thin vermilion border Hyperreflexia Ventriculomegaly Frontal bossing Malar flattening Pain Downslanted palpebral fissures Generalized dystonia Tapered finger Bilateral talipes equinovarus Hypoventilation Dystonia Failure to thrive Babinski sign Relative macrocephaly Constipation Myoclonus Temperature instability Kyphosis Clonus Hypertonia Microretrognathia Parkinsonism Bradykinesia Hypertelorism Drooling Postural tremor Pneumonia Short palpebral fissure Cerebellar atrophy Decreased fetal movement Posteriorly rotated ears Abnormal facial shape Apnea Muscle weakness Hypoplasia of the brainstem Fever Restrictive ventilatory defect Ulnar deviation of the hand Nocturnal hypoventilation Poroma Laryngeal stenosis Oculomotor nerve palsy Hypoplasia of the musculature Flushing Abnormality of the larynx Ulnar deviation of finger Microglossia Ankylosis Facial diplegia Trismus Glossoptosis Pierre-Robin sequence Villous atrophy Broad nasal tip Aplasia/Hypoplasia of the cerebellum Skeletal muscle atrophy Misalignment of teeth Fetal akinesia sequence Hyperinsulinemic hypoglycemia Hyperventilation Abnormality of the philtrum Multiple pterygia Narrow palm Intermittent hyperventilation Myopathy Depressed nasal bridge Epicanthus Hypertension Atrial septal defect Severe muscular hypotonia Hypospadias Elevated serum creatine phosphokinase Gastroesophageal reflux Facial palsy Hydronephrosis Nephrotic syndrome Abnormal cardiac septum morphology Ophthalmoplegia Cerebral calcification Heterotopia Abnormal lung morphology Plagiocephaly Cranial nerve paralysis Aplasia/Hypoplasia of the tongue Clinodactyly of the 5th finger Glandular hypospadias Oligodontia Long nose Mania Myopathic facies Tibial bowing Broad-based gait Abnormality of dental morphology Tented upper lip vermilion Dermal atrophy Abnormality of the periventricular white matter Hemiparesis Long eyelashes Dental crowding Fine hair Thin skin Broad thumb Ectodermal dysplasia Overlapping toe Narrow nose Febrile seizures Median cleft palate Agenesis of lateral incisor Narrow maxilla Conspicuously happy disposition Incomprehensible speech Dacryocystitis Large beaked nose Broad toe Happy demeanor Restlessness Toe clinodactyly Overbite Cleft soft palate Pes valgus Conical tooth Generalized osteoporosis Broad hallux phalanx Abnormality of digit Dental malocclusion Prominent nose Hypertensive crisis Midface retrusion Thin upper lip vermilion High forehead Narrow mouth Brachycephaly Osteoporosis Hernia Polyphagia Inguinal hernia Postnatal growth retardation Abnormality of the dentition Intellectual disability, severe Wide nasal bridge Low-set ears Congenital facial diplegia Pectoralis hypoplasia Impaired ocular abduction Aplasia of the pectoralis major muscle Joint laxity Anxiety Convex nasal ridge Bulbous nose Nail dysplasia Decreased testicular size Poor speech Wide nose Downturned corners of mouth Arachnodactyly Long face Short palm Short philtrum Abnormality of the foot Abnormality of the cerebral white matter Facial asymmetry Joint hyperflexibility Broad forehead Attention deficit hyperactivity disorder Prominent nasal bridge Sparse hair Short humerus Hyperlordosis Impulsivity Horizontal nystagmus Alacrima Anisocoria Diplopia Nausea Clumsiness Cognitive impairment Small for gestational age Abnormality of movement Abnormality of eye movement Specific learning disability Dyskinesia Apraxia Athetosis Truncal ataxia Cerebral palsy Orthostatic hypotension Photophobia Palmoplantar keratoderma Hypoplasia of the maxilla Papule Corneal opacity Ranula Neurological speech impairment Visual loss Oculomotor apraxia Acidosis Transient hyperphenylalaninemia Hyperphenylalaninemia Abnormality of the nose Limb hypertonia Drowsiness Achalasia Adrenal insufficiency Abnormality of the skin Lethargy Lower limb hyperreflexia Hypokinesia Opisthotonus Brisk reflexes Mask-like facies Hand clenching Irritability Limb dystonia Tip-toe gait Craniofacial disproportion Gait ataxia Pes cavus Cerebral atrophy Intellectual disability, mild Central hypotonia Progressive encephalopathy Nasal speech Myotonia Hypohidrosis Hypotension Sensory impairment Renal insufficiency Muscle stiffness Calf muscle hypertrophy Blurred vision Poor coordination Hearing impairment Myokymia Decreased CSF homovanillic acid Night sweats Focal dystonia Parkinsonism with favorable response to dopaminergic medication Infertility Abnormality of the nail Pterygium Abnormality of the nervous system Neonatal hypotonia Hypoglycemia Hypogonadism Coarse facial features Mandibular prognathia Clinodactyly Micropenis Arthrogryposis multiplex congenita Hypotrichosis Depressivity Obesity Aplasia/Hypoplasia of the eyebrow Short neck Myopia Wide mouth Autistic behavior Progressive leukoencephalopathy Adducted thumb Limited elbow extension Failure to thrive in infancy Sleep apnea Increased body weight Akinesia Trigonocephaly Hyperinsulinemia Alopecia Exotropia Open mouth Narrow forehead Esotropia Small hand Short foot Sparse or absent eyelashes Contractures of the large joints Keratitis Muscle cramps Kyphoscoliosis Postural instability Hypoplasia of the corpus callosum Edema Optic atrophy Vertigo Herpetiform corneal ulceration Encephalopathy 4-Hydroxyphenylpyruvic aciduria White papule Abnormality of amino acid metabolism Hypertyrosinemia Corneal ulceration Male infertility Arrhythmia Cerebral cortical atrophy Exaggerated startle response Hypsarrhythmia Central apnea Progressive spasticity Leukoencephalopathy Spastic tetraparesis Progressive microcephaly Hypertrichosis Tetraparesis Polydactyly Delayed myelination Postaxial polydactyly Hirsutism Single transverse palmar crease Headache Pectus carinatum Narrow jaw



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

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more