Delayed speech and language development, and Cough

Diseases related with Delayed speech and language development and Cough

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


Top matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1

Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, {613155}). Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C)Limb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGC2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGC3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGC4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGC5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGC7 (OMIM ), caused by mutation in the ISPD gene (OMIM ); MDDGC9 (OMIM ) caused by mutation in the DAG1 gene (OMIM ); MDDGC12 (OMIM ), caused by mutation in the POMK gene (OMIM ); and MDDGC14 (OMIM ) caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1 Is also known as muscular dystrophy, limb-girdle, type 2k;lgmd2k;lgmd2k; limb-girdle muscular dystrophy-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Motor delay


SOURCES: GARD NCIT MONDO EFO UMLS DOID OMIM ORPHANET SCTID

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1

Medium match SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18

Spastic paraplegia-18 is a severe autosomal recessive neurologic disorder characterized by onset in early childhood of progressive spastic paraplegia resulting in motor disability. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures (summary by Alazami et al., 2011 and Yildirim et al., 2011).

SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18 Is also known as intellectual disability, motor dysfunction, and joint contractures;idmdc;spg18

Related symptoms:

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


SOURCES: ORPHANET MONDO GARD OMIM MESH UMLS DOID

More info about SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18

Medium match HUNTINGTON DISEASE; HD

Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models.

HUNTINGTON DISEASE; HD Is also known as huntington chorea;huntington chorea

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Pica
  • Ataxia
  • Cognitive impairment


SOURCES: ORPHANET OMIM UMLS ICD10 SCTID

More info about HUNTINGTON DISEASE; HD

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Low match INTERSTITIAL LUNG AND LIVER DISEASE; ILLD

Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).

INTERSTITIAL LUNG AND LIVER DISEASE; ILLD Is also known as pulmonary alveolar proteinosis, reunion island, infantile liver failure syndrome 2, formerly;ilfs2, formerly

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Failure to thrive
  • Motor delay
  • Anemia


SOURCES: OMIM MONDO

More info about INTERSTITIAL LUNG AND LIVER DISEASE; ILLD

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27; COXPD27

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27; COXPD27 Is also known as ;coxpd27

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: EFO MONDO UMLS OMIM ORPHANET

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27; COXPD27

Low match CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as nbia1, classic form; neurodegeneration with brain iron accumulation type 1, classic form; pkan, classic form

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET

More info about CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

Low match RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1

Desmin-related myopathies (DRM) are a clinically and genetically heterogeneous group of muscular disorders defined morphologically by intrasarcoplasmic aggregates of desmin (DES ), usually accompanied by other protein aggregates. Approximately one-third of DRM are caused by mutations in the desmin gene (Ferreiro et al., 2004).For other forms of DRM, see primary desminopathy (OMIM ).

RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 Is also known as rigid spine syndrome;rss, myopathy, sepn1-related, muscular dystrophy, congenital, merosin-positive, with early spine rigidity;mdrs1, multicore myopathy, severe classic form, minicore myopathy, severe classic form, multiminicore disease, severe classic form, desmin-related myopathy with mallory bodies, muscular dystrophy, congenital, eichsfeld type

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Generalized hypotonia
  • Pica
  • Scoliosis


SOURCES: UMLS SCTID OMIM

More info about RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1

Low match GAUCHER DISEASE, TYPE II

Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gd ii, gaucher disease, acute neuronopathic type;acute neuronopathic gaucher disease; infantile cerebral gaucher disease

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Strabismus
  • Failure to thrive


SOURCES: UMLS GARD OMIM MONDO SCTID ORPHANET DOID

More info about GAUCHER DISEASE, TYPE II

Low match NEMALINE MYOPATHY 3; NEM3

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q22; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22.31, NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q12; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

NEMALINE MYOPATHY 3; NEM3 Is also known as ;actin myopathy

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Generalized hypotonia
  • Pica
  • Scoliosis


SOURCES: OMIM DOID MONDO NCIT UMLS MESH ORPHANET SCTID

More info about NEMALINE MYOPATHY 3; NEM3

Low match CEREBROCOSTOMANDIBULAR SYNDROME; CCMS

Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental retardation. A spectrum of rib gap defects have been reported ranging from a few dorsal rib segments to complete absence of ossification. In about half of the 65 reported cases to date, there is cerebral involvement including mental retardation, microcephaly, and histologic anomalies. Both autosomal dominant and autosomal recessive forms of the disorder have been described (Zeevaert et al., 2009).See CDG2G (OMIM ) for a cerebrocostomandibular-like syndrome.

CEREBROCOSTOMANDIBULAR SYNDROME; CCMS Is also known as rib gap defects with micrognathia;

Related symptoms:

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


SOURCES: ORPHANET OMIM UMLS MONDO MESH SCTID GARD

More info about CEREBROCOSTOMANDIBULAR SYNDROME; CCMS

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Pica Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Hyperreflexia Failure to thrive Respiratory distress Global developmental delay Dysphagia High palate Feeding difficulties Rigidity Spasticity Generalized hypotonia Muscle weakness Respiratory insufficiency Intellectual disability Spinal rigidity Gait disturbance Hepatomegaly Edema Autosomal dominant inheritance Respiratory failure Myopathy Tics Apnea Neonatal hypotonia Proximal muscle weakness Anemia Cardiomyopathy Cognitive impairment

Rare Symptoms - Less than 30% cases


Cerebellar atrophy Toe walking Bulbar palsy Mental deterioration Dysarthria Cerebral cortical atrophy Hypertension Weight loss Falls Abnormality of movement Hepatic steatosis Chorea Short stature Polyhydramnios Recurrent respiratory infections Hypoventilation Nasal speech Generalized muscle weakness Limb muscle weakness Arthrogryposis multiplex congenita Facial palsy Congestive heart failure Mask-like facies Brain atrophy Frequent falls Opisthotonus Areflexia Encephalopathy Cerebral atrophy Elbow flexion contracture Akinesia Progressive neurologic deterioration Generalized seizures Neurodegeneration Knee flexion contracture Dystonia Slow progression Generalized amyotrophy Pes cavus Kyphosis Hypertonia Hypoplasia of the corpus callosum Skeletal muscle atrophy Strabismus Type 1 muscle fiber predominance Hypokinesia Congenital muscular dystrophy Clonus Increased variability in muscle fiber diameter Microcephaly Trophic changes related to pain Ventricular hypertrophy Waddling gait Muscular dystrophy Difficulty walking Dyspnea Progressive Infantile onset Abnormality of eye movement Short humerus Feeding difficulties in infancy Protuberant abdomen Trismus Bulbar signs Abnormal pattern of respiration Recurrent aspiration pneumonia Abnormality of the skeletal system Pectus excavatum Absent uvula Hyporeflexia Heterogeneous Rib gap Retrognathia Hypertrophic cardiomyopathy Short hard palate Cardiac arrest Respiratory tract infection Hyperlordosis Genu valgum Dilated cardiomyopathy Pulmonary hypoplasia Paralysis Decreased fetal movement Joint contracture of the hand Narrow face Foot dorsiflexor weakness Mandibular aplasia Respiratory insufficiency due to muscle weakness Oculomotor apraxia Generalized myoclonic seizures Aspiration Peroneal muscle atrophy Malignant hyperthermia Thoracolumbar scoliosis Nonprogressive Respiratory arrest Lumbar scoliosis Right ventricular hypertrophy Abnormality of the rib cage Cor pulmonale Calcaneal epiphyseal stippling Restrictive deficit on pulmonary function testing Paradoxical respiration Axial muscle weakness Reduced vital capacity Nocturnal hypoventilation Myopathic facies Minicore myopathy Crackles Muscle fiber necrosis Limited neck flexion Orthopnea Type 1 and type 2 muscle fiber minicore regions Anomalous tracheal cartilage Splenomegaly Absent soft palate Thrombocytopenia Posterior rib gap Ophthalmoplegia Esotropia EMG: myopathic abnormalities Myotonia Meningocele Omphalocele Posteriorly rotated ears Gastroesophageal reflux Conductive hearing impairment Postnatal growth retardation Narrow chest 11 pairs of ribs Renal cyst Bell-shaped thorax Death in infancy Glossoptosis Webbed neck Cerebral calcification Abnormality of the ribs Congenital hip dislocation Clinodactyly of the 5th finger Horseshoe kidney Missing ribs Multicystic kidney dysplasia Spina bifida Myelomeningocele Atresia of the external auditory canal Neonatal respiratory distress Pierre-Robin sequence Anteriorly placed anus Anal stenosis Ectopic kidney Tracheomalacia Thoracic hypoplasia Patent ductus arteriosus Hypospadias Congenital contracture Percussion myotonia Mildly elevated creatine phosphokinase Thin ribs Hydranencephaly EMG: neuropathic changes Porencephalic cyst Facial diplegia Nemaline bodies Fetal akinesia sequence Breech presentation Slender build High pitched voice Fetal distress Diaphragmatic paralysis Late-onset distal muscle weakness Abnormality of cardiovascular system morphology Growth delay Micrognathia Ptosis Cleft palate Milia Low-set ears Epicanthus Intrauterine growth retardation Ventricular septal defect Cleft soft palate Atrial septal defect Long philtrum Abnormality of the dentition Malar flattening Neck flexor weakness Lower limb spasticity Poor head control Neuronal loss in central nervous system Arthritis EEG abnormality Aggressive behavior Anxiety Developmental regression Irritability Thigh hypertrophy Triceps weakness Gliosis Infertility Impaired visuospatial constructive cognition Abnormal cerebellum morphology Abnormal glycosylation Bradykinesia Gait ataxia Limb-girdle muscle weakness Type II diabetes mellitus Limb-girdle muscular dystrophy Abnormality of the voice Schizophrenia Involuntary movements Centrally nucleated skeletal muscle fibers Rheumatoid arthritis Mania Personality changes Restlessness Bronchitis Hyperkinesis Head tremor Hyperactivity Diabetes mellitus Chronic bronchitis Flexion contracture of toe Lower limb muscle weakness Delayed gross motor development Language impairment Aphasia Spastic paraplegia Ankle clonus Hip contracture Ankle contracture Limb hypertonia Wrist flexion contracture Upper limb spasticity Upper motor neuron dysfunction Pseudobulbar paralysis Flexion contracture of finger Dementia Difficulty in tongue movements Narrow maxilla Glabellar reflex Abnormality of jaw muscles Parietal hypometabolism in FDG PET Neurological speech impairment Ataxia Distal muscle weakness Nevus Absent speech Tremor Babinski sign Behavioral abnormality Depressivity Upper limb undergrowth Dilated fourth ventricle Ventriculomegaly Aspiration pneumonia Severe muscular hypotonia Lumbar hyperlordosis Microvesicular hepatic steatosis Decreased activity of mitochondrial respiratory chain Blindness Rod-cone dystrophy Attention deficit hyperactivity disorder Pigmentary retinopathy Optic disc pallor Inability to walk Muscle stiffness Increased susceptibility to fractures Generalized dystonia Abnormality of the tongue Status epilepticus Abnormal posturing Eye of the tiger anomaly of globus pallidus Iron accumulation in brain Autistic behavior Muscular hypotonia Fever Febrile seizures Myalgia Ranula Abdominal pain Dilatation Abnormality of the cerebral white matter Elevated serum creatine phosphokinase Progressive muscle weakness Postnatal microcephaly Epileptic encephalopathy Testicular atrophy Hepatic failure Paranoia Suicidal ideation Frequent temper tantrums Difficulty climbing stairs Calf muscle hypertrophy Vomiting Acidosis Elevated hepatic transaminase Hypothyroidism Abnormality of the liver Lactic acidosis Cirrhosis Aciduria Cholestasis Tetraparesis Abnormal lung morphology Aminoaciduria Decreased liver function Clubbing Interstitial pulmonary abnormality Severe failure to thrive Alveolar proteinosis Hearing impairment Skeletal muscle hypertrophy Easy fatigability Gowers sign Left ventricular hypertrophy Myoclonus Increased serum lactate Anomalous rib insertion to vertebrae


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