Delayed speech and language development, and Arthrogryposis multiplex congenita

Diseases related with Delayed speech and language development and Arthrogryposis multiplex congenita

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


Top matches:

High match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2

Related symptoms:

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


SOURCES: MONDO UMLS DOID OMIM

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2

High match PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8

Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum (summary by Mochida et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8 Is also known as ;pch8; pontocerebellar hypoplasia due to chmp1a mutation

Related symptoms:

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


SOURCES: MONDO DOID UMLS ORPHANET SCTID OMIM

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8

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

Mendelian

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

Learn more

Other less relevant matches:

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 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH

Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by microcephaly, impaired ocular movements, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Female carriers may be mildly affected (summary by Schroer et al., 2010 and Pescosolido et al., 2014).

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH Is also known as angelman-like syndrome, x-linked, mental retardation, microcephaly, epilepsy, and ataxia syndrome;x-linked angelman-like syndrome; x-linked intellectual disability, south african type; x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome

Related symptoms:

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


SOURCES: ORPHANET MONDO GARD OMIM DOID UMLS MESH SCTID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH

Medium match PEHO SYNDROME; PEHO

PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral edema (summary by Anttonen et al., 2017).

PEHO SYNDROME; PEHO Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy, infantile cerebellooptic atrophy;progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; progressive encephalopathy-optic atrophy syndrome

Related symptoms:

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


SOURCES: OMIM UMLS ORPHANET

More info about PEHO SYNDROME; PEHO

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D

Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006).CDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by Marques-da-Silva et al., 2017).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D Is also known as cdg id;cdgid, carbohydrate-deficient glycoprotein syndrome, type iv, formerly;cdgs4, formerly, cdgs, type iv, formerly;cdg syndrome type id; cdg-id; cdg1d; carbohydrate deficient glycoprotein syndrome type id; congenital disorder of glycosylation type 1d; congenital disorder of glycosylation type id; mannosyltransferase 6 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: UMLS MESH NCIT GARD SCTID ORPHANET OMIM MONDO

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D

Medium match WOODHOUSE-SAKATI SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia;diabetes-hypogonadism-deafness-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis


SOURCES: GARD SCTID ORPHANET OMIM MONDO UMLS MESH

More info about WOODHOUSE-SAKATI SYNDROME

Medium match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3

Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3 Is also known as glycosylphosphatidylinositol biosynthesis defect 7;gpibd7;congenital disorder of glycosylation due to pigt deficiency; mcahs type 3; multiple congenital anomalies-hypotonia-seizures syndrome type 3; pigt-cdg

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MONDO DOID ORPHANET OMIM UMLS

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007; Muntoni and Voit, 2004; Muntoni et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 Is also known as fukuyama congenital muscular dystrophy;fcmd, walker-warburg syndrome or muscle-eye-brain disease, fktn-related;fcmd; fukuyama congenital muscular dystrophy

Related symptoms:

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


SOURCES: MONDO UMLS SCTID ORPHANET DOID NCIT OMIM

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia 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 Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance

Common Symptoms - More than 50% cases


Absent speech

Uncommon Symptoms - Between 30% and 50% cases


Hyperreflexia Strabismus Visual impairment Scoliosis Abnormal facial shape Polymicrogyria Nystagmus Cerebral atrophy Cerebellar hypoplasia EEG abnormality Hypoplasia of the corpus callosum Pectus excavatum Atrophy/Degeneration affecting the brainstem Macrocephaly Ventriculomegaly Failure to thrive Dystonia Arrhythmia Hypsarrhythmia Open mouth Abnormality of the eye Neuronal loss in central nervous system Brachycephaly Macrotia Feeding difficulties Severe global developmental delay Brain atrophy Oxycephaly Intellectual disability, severe Cerebellar atrophy Cortical visual impairment Optic atrophy Poor speech Spasticity Hypermetropia Muscular hypotonia of the trunk Hypertonia

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Depressed nasal bridge High palate Diarrhea Abnormality of the pinna Gait disturbance High forehead Thick eyebrow Atrial septal defect Autism Motor delay Apnea Retrognathia Infantile onset Myopathy Downslanted palpebral fissures Intellectual disability, mild Encephalopathy Muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Epicanthus Pica Anteverted nares Infantile muscular hypotonia Adducted thumb Edema Hydrocephalus Intellectual disability, profound Hypertelorism Blindness Abnormality of eye movement Malar flattening Abnormality of movement Feeding difficulties in infancy Narrow forehead Cerebral cortical atrophy Autosomal dominant inheritance Pachygyria Growth delay Decreased muscle mass Rigidity Talipes equinovarus Dysphagia Myopia Myoclonus Cortical dysplasia Small for gestational age Gait ataxia Gastroesophageal reflux Abnormality of the foot Clonus Vomiting Congenital onset Involuntary movements Postnatal microcephaly Intrauterine growth retardation Hypoplasia of the brainstem Decreased serum testosterone level Aplasia/Hypoplasia of the eyebrow Sparse eyebrow Hypoplasia of the uterus Autoimmune thrombocytopenia Insulin-resistant diabetes mellitus Heart block Anodontia Delayed skeletal maturation Abnormality of the dentition Increased thyroid-stimulating hormone level Decreased serum estradiol Long philtrum Micrognathia Streak ovary Cardiomyopathy Abnormal spermatogenesis Decreased serum insulin-like growth factor 1 Hypoplasia of the fallopian tube Abnormal T-wave Small hand Progressive alopecia Progressive extrapyramidal movement disorder Hyperlipidemia Flat occiput Hypothyroidism Triangular face Delayed puberty Camptodactyly Prominent nasal bridge Sparse hair Mental deterioration Protruding ear Tetraplegia Polyneuropathy Hypogonadism Diabetes mellitus Micropenis Alopecia Babinski sign Abnormality of metabolism/homeostasis Spastic tetraplegia Sensory neuropathy Decreased testicular size Premature ovarian insufficiency Choreoathetosis Upslanted palpebral fissure Purpura Hypogonadotrophic hypogonadism Hallucinations Hypergonadotropic hypogonadism Dehydration Myocardial infarction Fine hair Prominent nose Athetosis Sparse scalp hair Primary amenorrhea Psychosis Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Amenorrhea Dental malocclusion Patent ductus arteriosus Progressive flexion contractures Osteoporosis Lissencephaly Congenital muscular dystrophy Calf muscle hypertrophy Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Mask-like facies Holoprosencephaly Plagiocephaly Generalized amyotrophy Hemivertebrae Knee flexion contracture Bradycardia EMG abnormality Preauricular skin tag Congenital hip dislocation Encephalocele Cephalocele Multiple joint contractures Generalized muscle weakness Type II lissencephaly Hypoplasia of the pyramidal tract Thoracic hemivertebrae Lobar holoprosencephaly Myocardial fibrosis Exaggerated startle response Auricular tag Cerebellar dysplasia Spinal rigidity Buphthalmos Cerebellar cyst Ankle contracture Retinal dysplasia Weak cry Anencephaly Transposition of the great arteries Cerebellar vermis hypoplasia Abnormal cerebellum morphology Abnormality of the genital system Deep philtrum Ureteral stenosis Restrictive cardiomyopathy Inverted nipples Large for gestational age Hypoplasia of the ulna Hypercalciuria Calcinosis Cataract Nephrocalcinosis Status epilepticus Generalized myoclonic seizures Downturned corners of mouth Renal cyst Tics Osteopenia Low alkaline phosphatase Muscle weakness Retinal detachment Camptodactyly of finger Pulmonic stenosis Dilated cardiomyopathy Abnormality of the cerebral white matter Muscular dystrophy Dolichocephaly Congenital cataract Hip dislocation Glaucoma Milia Agenesis of corpus callosum Dilatation Areflexia Elevated serum creatine phosphokinase Respiratory distress Microphthalmia Respiratory insufficiency Frontal bossing Portal fibrosis Dysarthria Developmental regression Unsteady gait Long face Ophthalmoplegia Narrow chest Joint hyperflexibility Deeply set eye Kyphoscoliosis Sleep disturbance Abnormal pyramidal sign Mandibular prognathia Gliosis Death in infancy Premature birth Focal seizures Coarse facial features Urinary incontinence Progressive neurologic deterioration Stereotypy Abnormality of the thorax Aplasia/Hypoplasia of the cerebellum Mutism Talipes valgus Cachexia Drooling Intellectual disability, progressive X-linked dominant inheritance Truncal ataxia Decreased body weight Narrow face Generalized seizures Progressive Epileptic encephalopathy Tetraparesis Pain Long nose Low-set ears Kyphosis Abnormality of the skeletal system Global brain atrophy Ankle clonus Severe failure to thrive Corpus callosum atrophy Ptosis CNS hypomyelination Rotary nystagmus Progressive spastic paraparesis Short stature Diffuse cerebral sclerosis Sudanophilic leukodystrophy Rapid neurologic deterioration Abnormality of cardiovascular system morphology Spastic tetraparesis Ataxia Thick vermilion border Decreased palmar creases Prominent nasal tip Wide nasal base Cerebral palsy Microretrognathia Short palpebral fissure Highly arched eyebrow Narrow mouth Leukodystrophy Autistic behavior Short philtrum Wide mouth Spastic paraparesis Hyperactivity Paraparesis Dysphasia Bowel incontinence Peripheral neuropathy Perisylvian polymicrogyria Bulbous nose Coloboma Akinesia Clinodactyly Wide nasal bridge Fetal akinesia sequence Undetectable visual evoked potentials Bifid uvula Peripheral dysmyelination Peripheral edema Abnormality of upper lip Infantile encephalopathy Periventricular leukomalacia Porencephalic cyst Iris coloboma Nail dysplasia Edema of the lower limbs Projectile vomiting Cognitive impairment Sensorineural hearing impairment Hearing impairment Food intolerance Clinodactyly of the 5th toe Type I transferrin isoform profile Decreased light- and dark-adapted electroretinogram amplitude Small nail Villous atrophy Severe visual impairment Hypoplastic nipples Long fingers Abnormality of vision Joint contracture of the hand Developmental stagnation Epileptic spasms Slender finger Conspicuously happy disposition Short nose Astigmatism Chorea Esotropia Hypertrichosis Loss of ability to walk in first decade Photosensitive tonic-clonic seizures Recurrent respiratory infections Inappropriate laughter Death in early adulthood Happy demeanor Abnormality of the nose Dyslexia Hyperkinesis Midface retrusion Visual loss Drowsiness Severe muscular hypotonia Progressive encephalopathy Palpebral edema External ear malformation Infantile spasms Biparietal narrowing Tented upper lip vermilion Abnormality of the hand Ranula Abnormal palate morphology Progressive microcephaly Gingival overgrowth Full cheeks Limitation of joint mobility Tapered finger Pes cavus Hypoglycosylation of alpha-dystroglycan



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Abnormal blistering of the skin, related diseases and genetic alterations Wide nasal bridge and Arachnodactyly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more