Global developmental delay, and Atopic dermatitis

Diseases related with Global developmental delay and Atopic dermatitis

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

Top matches:

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

NETHERTON SYNDROME Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige|comÈl-netherton syndrome|bamboo hair syndrome|comel-netherton syndrome|ns|netherton disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NETHERTON SYNDROME

High match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Other less relevant matches:

EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EVEN-PLUS SYNDROME

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Medium match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM ), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018).For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; {210900})

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2

Top 5 symptoms//phenotypes associated to Global developmental delay and Atopic dermatitis

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Gastroesophageal reflux Cardiomyopathy Inflammatory abnormality of the skin Generalized hypotonia Delayed skeletal maturation High palate Atrial septal defect Hearing impairment Ichthyosis Recurrent infections Abnormal facial shape Short neck Feeding difficulties Skin rash Alopecia Fever Thrombocytopenia Immunodeficiency Delayed speech and language development Pruritus Dysarthria Hepatomegaly Eczema Ataxia Scoliosis Cerebral atrophy Ventriculomegaly Anteverted nares Vomiting Recurrent skin infections Cafe-au-lait spot Hypertrophic cardiomyopathy Ptosis Brachydactyly Deep philtrum Microcephaly Abnormality of the cerebral white matter Erythema Hypertelorism Sparse hair Short nose Vasculitis High forehead Abnormality of the dentition

Rare Symptoms - Less than 30% cases

Bilateral ptosis Hemiparesis Cryptorchidism Abnormality of cardiovascular system morphology Pectus excavatum Posteriorly rotated ears Prominent forehead Hypothyroidism Macrotia Umbilical hernia Hydrocephalus Decreased body weight Ventricular septal defect Abnormality of the pinna Strabismus Postnatal growth retardation Anal atresia Downslanted palpebral fissures Cerebral visual impairment Macrocephaly Epicanthus Vesicoureteral reflux Attention deficit hyperactivity disorder Patent foramen ovale Overlapping toe Micrognathia Low-set ears Low-set, posteriorly rotated ears Webbed neck Pectus carinatum Hypertonia Peripheral axonal neuropathy Cataract Scarring Dilated cardiomyopathy Optic atrophy Tremor Dysphagia Blindness Congestive heart failure Kyphosis Nystagmus Depressivity Encephalopathy Abnormal heart morphology Constipation Edema Frontal bossing Cerebral cortical atrophy Autism EEG abnormality Feeding difficulties in infancy Muscular hypotonia Abnormal location of ears Dolichocephaly Hoarse voice Hypotrichosis Pulmonic stenosis Joint hypermobility High, narrow palate Neurological speech impairment Growth hormone deficiency Coarctation of aorta Ventricular hypertrophy Low posterior hairline Hyperpigmentation of the skin Optic nerve hypoplasia Abnormality of the pulmonary artery Relative macrocephaly Failure to thrive in infancy Aplasia/Hypoplasia of the eyebrow Neurodevelopmental delay Arnold-Chiari type I malformation Abnormality of the testis Abnormality of refraction Slow-growing hair Abnormality of the cardiovascular system Thickened helices Abnormal palate morphology Carious teeth Depressed nasal bridge Sensorineural hearing impairment Sensory impairment Asthma Decreased antibody level in blood Intrauterine growth retardation Respiratory tract infection Myoclonus Hyporeflexia Anemia Cognitive impairment Dystonia Malabsorption Fine hair Splenomegaly Sparse scalp hair Allergic rhinitis Irritability Sparse eyelashes Developmental regression Malnutrition Brittle hair Dry skin Scaling skin Combined immunodeficiency Recurrent respiratory infections Basal ganglia calcification Weight loss Nephrotic syndrome Hydronephrosis Abnormal macular morphology Progressive night blindness Cochlear malformation Clinodactyly of the 5th finger Edema of the dorsum of hands Abnormal mitochondrial morphology Recurrent viral infections Auditory hallucinations Paronychia Spotty hypopigmentation Hemeralopia Hyperhidrosis Leukoencephalopathy Inguinal hernia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Absence seizures Renal Fanconi syndrome Abnormal nerve conduction velocity Intellectual disability, mild Periorbital edema Episodic fever Myopia Bicuspid aortic valve Abnormality of acid-base homeostasis Autoimmunity Prominent ear helix Everted lower lip vermilion Intellectual disability, severe Morphological abnormality of the inner ear Behavioral abnormality Bifid uvula Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Amaurosis fugax Cochlear degeneration Homonymous hemianopia Pes planus Abnormal cochlea morphology Paralytic ileus Long philtrum Abnormal mitochondrial shape Malar flattening Hernia Clinodactyly IgA deficiency Neoplasm Subcutaneous nodule Psychomotor deterioration Gastroparesis Rhabdomyolysis Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Hyperthyroidism Posterior subcapsular cataract Dysphasia Focal segmental glomerulosclerosis Abnormality of neuronal migration Adrenal insufficiency Bundle branch block Aphasia Vestibular dysfunction Reduced subcutaneous adipose tissue Glomerulopathy Hyperkalemia Visual field defect Prolonged QT interval Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Progressive external ophthalmoplegia Transient ischemic attack Spontaneous hematomas Speech apraxia Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Proptosis Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Left ventricular failure Delusions Increased CSF lactate Cardiorespiratory arrest Facial diplegia Aortic dissection Renal tubular dysfunction Tubulointerstitial nephritis Visual hallucinations Wolff-Parkinson-White syndrome Lymphadenitis Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Stroke-like episode Seborrheic dermatitis Hyperkeratosis Abnormal cardiac septum morphology Oral aversion Hyperextensibility of the finger joints Ectropion Pleural effusion Sparse eyebrow Redundant skin Dystrophic fingernails Abnormality of the optic nerve Delayed CNS myelination Abnormal myocardium morphology Deep palmar crease Gastrointestinal dysmotility Abnormal mitral valve morphology Subvalvular aortic stenosis Abnormal aortic valve morphology Excessive wrinkled skin Cubitus valgus Hyperextensible skin Abnormality of hair texture Poor suck Cavernous hemangioma Multiple lentigines Abnormality of vision Sparse or absent eyelashes Palmoplantar hyperkeratosis Increased nuchal translucency Endocarditis Delayed gross motor development Frontal balding Anterior creases of earlobe Melanocytic nevus Chronic otitis media Abnormal tricuspid valve morphology Biparietal narrowing Abnormal eyelash morphology Enlarged kidney Absent eyelashes Poor appetite Hypoplasia of the zygomatic bone Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Premature skin wrinkling Abnormality of the ulna Abnormality of the gastrointestinal tract Curly hair Short attention span Heart murmur Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Woolly hair Abnormality of the sternum Infantile spasms Neurofibromas Hydroureter Open bite Thick upper lip vermilion Large for gestational age Abnormal hair pattern Absent eyebrow Obsessive-compulsive behavior Abnormality of the optic disc Patchy alopecia Polyhydramnios Genu valgum Abdominal distention Palmoplantar keratoderma Sleep disturbance Hepatic steatosis Thick vermilion border Retinal dystrophy Inappropriate crying Bruising susceptibility Bulbous nose Falls Long face Abnormality of skin pigmentation Astigmatism Hypermetropia Full cheeks Nail dystrophy Abnormality of the auditory canal Leukemia Alopecia of scalp Multiple palmar creases Abnormality of the kidney Abnormality of the eye Telecanthus Eyelid fasciculation Aggressive behavior Coarse facial features Multiple plantar creases Osteopenia Abnormal bleeding Cutaneous T-cell lymphoma Mask-like facies Hyperkeratosis pilaris Abnormality of the genitourinary system Optic nerve dysplasia Hypoplasia of the frontal lobes Generalized ichthyosis Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Laryngeal cleft Cutis laxa Oculomotor apraxia Narrow palate Functional abnormality of the gastrointestinal tract Tongue thrusting Abnormality of the nail Nevus Aspiration Lymphedema Thickened skin Open mouth Abnormality of the hairline Myocardial infarction Puberty and gonadal disorders Cardiomegaly Morphological abnormality of the gastrointestinal tract Narrow forehead Progressive visual loss Dental malocclusion Premature birth Intestinal malrotation Hemiplegia/hemiparesis Paresthesia Bifid scrotum Renal hypoplasia Hypoplastic helices Dysplastic corpus callosum Vertebral clefting Anotia Coronal cleft vertebrae Bifid nasal tip Hypoplasia of the odontoid process Aplasia cutis congenita Metaphyseal dysplasia Epiphyseal dysplasia Abnormality of the outer ear Recurrent urinary tract infections Depressed nasal ridge Oligohydramnios Patent ductus arteriosus Hypodontia Highly arched eyebrow Flat face Synophrys Microtia Neonatal hypotonia Brachycephaly Severe short stature Agenesis of corpus callosum Midface retrusion Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Dysplasia of the femoral head Hyperactivity Severe combined immunodeficiency Coarse hair Abnormally large globe Hypomagnesemia Fragile nails Hiatus hernia Abnormality of the elbow Broad neck Natal tooth Freckling Abnormality of coagulation Right bundle branch block Hypoplastic toenails Overfolded helix Nasal speech Increased intracranial pressure Retrognathia Arnold-Chiari malformation Infantile muscular hypotonia Abnormality of the fingernails Hypocalcemia Thin skin Mitral regurgitation Thick lower lip vermilion Cyanosis Dandy-Walker malformation Wide intermamillary distance Thin vermilion border Craniosynostosis Hypoglycemia Membranoproliferative glomerulonephritis Glomerulonephritis Redundant neck skin Spastic tetraparesis Abnormal intestine morphology Acanthosis nigricans Aminoaciduria Abnormality of the hair Sparse and thin eyebrow Dehydration Sepsis Chilblains Serositis Progressive spastic paraplegia Pericardial effusion Increased antibody level in blood Toe walking Progressive microcephaly Intracranial hemorrhage Lower limb spasticity Progressive neurologic deterioration Tetraparesis Spastic tetraplegia Brain atrophy Tetraplegia Lymphadenopathy Paraplegia Abnormality of eye movement Spastic paraplegia Muscular hypotonia of the trunk Absent speech Spasticity Urticaria Psoriasiform dermatitis Leukopenia Immunologic hypersensitivity Narrow palpebral fissure Lymphopenia Bronchiectasis Lymphoma Neutropenia Hemolytic anemia Abnormality of the nervous system Conductive hearing impairment Abnormality of the skeletal system IgE-mediated food allergy Brittle scalp hair Hypernatremic dehydration Hypernatremia Angioedema Erythroderma Increased IgE level Trichorrhexis nodosa Congenital nonbullous ichthyosiform erythroderma Allergy Verrucae Villous atrophy Hypothermia Severe postnatal growth retardation Irregular hyperpigmentation Congenital ichthyosiform erythroderma Abnormality of the musculature Ectopic kidney Emphysema Enlarged cisterna magna Peripheral pulmonary artery stenosis Aplasia/Hypoplasia of the cerebellum Type II diabetes mellitus Cardiac arrest Clonus Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Anorexia Left ventricular hypertrophy Involuntary movements Hypertrichosis Atrial fibrillation Psychosis Status epilepticus Pulmonary arterial hypertension Bilateral sensorineural hearing impairment EMG abnormality Generalized-onset seizure Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Memory impairment Increased serum lactate Migraine Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Truncal ataxia Generalized hirsutism Coma Easy fatigability Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Hyperkinesis Hypogonadotrophic hypogonadism Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Exercise intolerance Type I diabetes mellitus Postural instability Polyneuropathy Dermal translucency Fatigue Rod-cone dystrophy Cerebellar hypoplasia Elevated serum creatine phosphokinase Areflexia Arrhythmia Visual loss Headache Renal insufficiency Diarrhea Cerebellar atrophy Myopathy Respiratory distress Respiratory insufficiency Gait disturbance Osteoporosis Skeletal muscle atrophy Hyperreflexia Peripheral neuropathy Hypertension Motor delay Visual impairment Pain Muscle weakness Abnormality of the nasal bridge Broad fingertip Loose anagen hair Superior pectus carinatum Abnormality of the intervertebral disk Dementia Hypogonadism Nephropathy Generalized tonic-clonic seizures Hirsutism Polymicrogyria Nausea Lactic acidosis Vertigo Confusion Dysmetria Delayed puberty Nausea and vomiting Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Stroke Diabetes mellitus Nyctalopia Abnormality of the liver Protruding ear Mental deterioration Apnea Proteinuria Anxiety Myalgia Photophobia Jaundice Acidosis Dyspnea Gait ataxia Abdominal pain Malar rash


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