Global developmental delay, and Cough

Diseases related with Global developmental delay and Cough

In the following list you will find some of the most common rare diseases related to Global developmental delay and Cough that can help you solving undiagnosed cases.

Top matches:

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 18

Medium match RIGID SPINE SYNDROME

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

Other less relevant matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.

CEREBROCOSTOMANDIBULAR SYNDROME Is also known as rib gap defects with micrognathia

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CEREBROCOSTOMANDIBULAR SYNDROME

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome, type ii|ogs2|opitz-frias syndrome|opitz gbbb syn

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Medium match MYHRE SYNDROME

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Cough

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Cough. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Constipation Respiratory insufficiency Flexion contracture Growth delay Motor delay Failure to thrive Generalized hypotonia Muscle weakness Muscular hypotonia Respiratory failure Feeding difficulties Vomiting Cognitive impairment Hypospadias Short stature Hypertelorism Oral-pharyngeal dysphagia Ataxia Postnatal growth retardation Conductive hearing impairment Patent ductus arteriosus Ventricular septal defect Intrauterine growth retardation Cleft palate Microcephaly Cardiomyopathy Hyporeflexia Pneumonia Gastroesophageal reflux Hyperlordosis Inguinal hernia Abnormality of eye movement Elbow flexion contracture Frontal bossing Toe walking Dysphagia Kyphosis Gait disturbance Rod-cone dystrophy Spasticity Blindness Skeletal muscle atrophy Strabismus Hyperreflexia

Rare Symptoms - Less than 30% cases

Abnormality of the eye Deeply set eye Unilateral cleft lip Abnormal lung morphology Muscle stiffness Hernia Recurrent infections Osteopenia Abnormal heart morphology Cerebral atrophy Ptosis Dysarthria Nocturnal hypoventilation Muscle fiber necrosis Short neck Depressivity Agenesis of corpus callosum Hyperhidrosis Hypoventilation Stridor Congenital muscular dystrophy Tracheomalacia Pain Anal stenosis Abnormality of cardiovascular system morphology Limitation of joint mobility Micrognathia Low-set ears Epicanthus Attention deficit hyperactivity disorder Respiratory distress Atrial septal defect Malar flattening Weight loss Posteriorly rotated ears Specific learning disability Sudden cardiac death Nyctalopia Cataract Scarring Respiratory tract infection EEG abnormality Hyperactivity Recurrent respiratory infections Optic disc pallor Cerebral calcification Abnormality of the ribs Intellectual disability, mild Behavioral abnormality Diarrhea Nasal speech Gowers sign Macrocephaly Bifid uvula Thin upper lip vermilion Proximal muscle weakness Poor coordination Abnormal facial shape Clonus Hearing impairment Megalencephaly Fever Edema Cleft lip Prominent nasal bridge Abnormal cardiac septum morphology Precocious puberty Coarctation of aorta Congestive heart failure Myopathy Facial palsy Aortic valve stenosis Oral cleft Neurological speech impairment Distal muscle weakness Waddling gait Amenorrhea Cryptorchidism Limb muscle weakness Progressive muscle weakness Hepatomegaly Abnormality of the cerebral white matter Muscular dystrophy Hip contracture Pulmonary hypoplasia Cleft upper lip Smooth philtrum Anal atresia Iris coloboma Headache Splenomegaly Renal insufficiency Fatigue High, narrow palate Laryngomalacia Coloboma Umbilical hernia Vertigo Infertility Papule Skin rash Erythema Prominent forehead Cerebral cortical atrophy Micropenis Pallor Abdominal pain Arthritis Myalgia Hepatosplenomegaly Hydronephrosis Neoplasm Abnormality of the kidney Craniosynostosis Arthralgia Telecanthus Short lingual frenulum Absent pulmonary artery Abnormality of the ureter Bilateral cleft lip and palate Diastasis recti Recurrent urinary tract infections Bilateral cleft lip Aspiration Nausea Hiatus hernia Hoarse voice Prominent metopic ridge Cardiac arrest Enlarged cisterna magna Limb dystonia Weak cry Prominent occiput Rocker bottom foot Tracheoesophageal fistula Bifid scrotum Abnormality of the urinary system Recurrent upper respiratory tract infections Anosmia Abnormality of the respiratory system Widow's peak Rectourethral fistula Cranial asymmetry Posterior pharyngeal cleft Rectal atresia Vascular ring Laryngeal cleft Vesicoureteral reflux Intestinal malrotation Hypoplasia of the epiglottis Hoarse cry Aplasia/Hypoplasia of the cerebellar vermis Absent gallbladder Concave nasal ridge Metopic synostosis Inspiratory stridor Dandy-Walker malformation Ankyloglossia Dilated fourth ventricle Cavum septum pellucidum Sagittal craniosynostosis Pulmonary arterial hypertension Bicornuate uterus Cerebellar vermis hypoplasia Lymphadenopathy Pes cavus Retinal dystrophy Short long bone Abnormal joint morphology High hypermetropia Vertebral fusion Short finger Pericardial effusion External genital hypoplasia Blurred vision 2-3 toe syndactyly Overlapping toe Skeletal muscle hypertrophy Radial deviation of finger Cone-shaped epiphysis Abnormality of the voice Narrow palpebral fissure Keratoconus EMG abnormality Short toe Abnormality of epiphysis morphology Thickened skin Abnormality of the metaphysis Choanal atresia Short palpebral fissure Fine hair Abnormality of the cardiovascular system Progressive cerebellar ataxia Hypoplasia of the maxilla Short palm Thick eyebrow Thickened calvaria Arthropathy Astigmatism Abnormality of the menstrual cycle Gingival cleft Enlarged vertebral pedicles Laryngotracheal stenosis Generalized muscle hypertrophy Abnormality of the pubic bone Constrictive pericarditis Pear-shaped nose Large iliac wings Esophageal stenosis Pseudopapilledema Stiff skin Abnormality of the penis Abnormal lip morphology Epispadias Pericarditis Femoral hernia Peptic ulcer Constrictive median neuropathy Craniofacial hyperostosis Restrictive cardiomyopathy Broad ribs Tracheal stenosis Hypoplastic iliac wing Chronic constipation Oligomenorrhea Irregular vertebral endplates Submucous cleft hard palate Wheezing Thin vermilion border Hypermetropia Abdominal distention Intestinal obstruction Recurrent aphthous stomatitis Peritonitis Large forehead Acrocyanosis Posterior subcapsular cataract Peripheral visual field loss Uveitis Episodic fever Amyloidosis Colitis Elevated erythrocyte sedimentation rate Hypermelanotic macule Leukocytosis Apathy Increased IgA level Urticaria Purpura Conjunctivitis Vasculitis Recurrent pneumonia Long eyelashes Nephrotic syndrome Eczema Dehydration Aciduria Gastrointestinal hemorrhage Migraine Sepsis Chills Neuritis Platyspondyly Clinodactyly Small for gestational age Short philtrum Microtia Blepharophimosis Sparse hair Joint stiffness Autistic behavior Camptodactyly Mandibular prognathia Autism Narrow mouth Hypogonadism Severe short stature Obesity Porokeratosis Midface retrusion Microphthalmia Syndactyly Cerebellar atrophy Abnormality of the skeletal system Brachydactyly Sensorineural hearing impairment Pharyngitis Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Erysipelas Subcapsular cataract Diplopia Dystonia Anemia Oligohydramnios Ascites Hepatic steatosis Cirrhosis Abnormality of the liver Joint laxity Elevated hepatic transaminase Hypoglycemia Frequent falls Increased susceptibility to fractures Mask-like facies Opisthotonus Cholestasis Cardiac conduction abnormality Abnormality on pulmonary function testing Type 1 and type 2 muscle fiber minicore regions Abnormality of skeletal morphology Limited neck flexion Hamstring contractures Minicore myopathy Crackles Orthopnea Peroneal muscle atrophy Reduced vital capacity Pancytopenia Decreased liver function Axial muscle weakness Dilatation Hypokalemia Ventricular arrhythmia Exercise intolerance Chest pain Macroglossia Distal amyotrophy Falls Dilated cardiomyopathy Dyspnea Elevated serum creatine phosphokinase Arrhythmia Intellectual disability, severe Hypocalcemia Delayed speech and language development Small scrotum Vitamin A deficiency Anasarca Vitamin D deficiency Bile duct proliferation Interstitial pulmonary abnormality Rickets Portal hypertension Hypoalbuminemia Tachypnea Respiratory arrest Abnormality of the rib cage Myotonia Ankle clonus Narrow maxilla Difficulty in tongue movements Flexion contracture of toe Wrist flexion contracture Pseudobulbar paralysis Upper limb spasticity Upper motor neuron dysfunction Limb hypertonia Ankle contracture Delayed ability to walk Progressive spastic paraplegia Aphasia Glabellar reflex Language impairment Delayed gross motor development Knee flexion contracture Absent speech Lower limb spasticity Febrile seizures Lower limb muscle weakness Paraplegia Babinski sign Spastic paraplegia Severe global developmental delay Flexion contracture of finger Abnormality of jaw muscles Restrictive deficit on pulmonary function testing Generalized muscle weakness Cor pulmonale Right ventricular hypertrophy Thoracolumbar scoliosis Malignant hyperthermia Neck muscle weakness Spinal rigidity Generalized amyotrophy High pitched voice Increased variability in muscle fiber diameter Poor head control Ventricular hypertrophy Arthrogryposis multiplex congenita Parietal hypometabolism in FDG PET Aspiration pneumonia Apnea Neonatal hypotonia Rigidity Generalized dystonia Abnormality of the tongue Abnormal posturing Eye of the tiger anomaly of globus pallidus Iron accumulation in brain Hypoplasia of the corpus callosum Hypertonia Limb-girdle muscular dystrophy Calf muscle hypertrophy Anteverted nares Abnormal pyramidal sign Abnormal autonomic nervous system physiology Leukodystrophy Difficulty walking Peripheral demyelination Hypotension Chorea Gliosis Tetraplegia Sleep disturbance Dysmetria Nausea and vomiting Developmental regression Sleep apnea Hypothyroidism Diabetes mellitus Dementia Hydrocephalus Tremor Nystagmus Paradoxical respiration Rib gap Posterior rib gap Calcaneal epiphyseal stippling Anomalous rib insertion to vertebrae Leukoencephalopathy Dysphonia Absent soft palate Hypersomnia Ventriculomegaly Downslanted palpebral fissures Wide nasal bridge Depressed nasal bridge Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Pseudobulbar signs Large face Aqueductal stenosis Encephalitis Bulbar signs Hypothermia Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Progressive spasticity Bowel incontinence Dysphasia Emotional lability Self-injurious behavior Anomalous tracheal cartilage Absent uvula Abnormality of color vision Intestinal pseudo-obstruction Abnormality of the dentition Inability to walk Pigmentary retinopathy Absent muscle dystrophin expression Red-green dyschromatopsia Hemiatrophy Proximal lower limb amyotrophy Calf muscle pseudohypertrophy Gastroparesis Shoulder girdle muscle atrophy Proximal muscle weakness in lower limbs Gastrointestinal dysmotility Clinodactyly of the 5th finger Breech presentation Congenital stationary night blindness Shoulder girdle muscle weakness Limb-girdle muscle weakness Chromosome breakage Male pseudohermaphroditism Myoglobinuria Abnormal EKG Difficulty running Exertional dyspnea Difficulty climbing stairs Long philtrum Polyhydramnios Short hard palate Short humerus Mandibular aplasia Hydranencephaly Porencephalic cyst Cleft soft palate 11 pairs of ribs Missing ribs Myelomeningocele Pierre-Robin sequence Meningocele Bell-shaped thorax Glossoptosis Anteriorly placed anus Narrow chest Thoracic hypoplasia Ectopic kidney Neonatal respiratory distress Atresia of the external auditory canal Multicystic kidney dysplasia Horseshoe kidney Congenital hip dislocation Spina bifida Omphalocele Webbed neck Renal cyst Hypoplasia of eyelid


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Skeletal dysplasia, related diseases and genetic alterations Ptosis and Macroglossia, related diseases and genetic alterations Spasticity and Severe global developmental delay, related diseases and genetic alterations Sensorineural hearing impairment and Hypopigmentation of the skin, related diseases and genetic alterations Anemia and Single transverse palmar crease, related diseases and genetic alterations Microcephaly and Pes cavus, related diseases and genetic alterations