Growth delay, and Atopic dermatitis

Diseases related with Growth delay and Atopic dermatitis

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

Top matches:

Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Other less relevant 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

Low 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

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

Low 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

Top 5 symptoms//phenotypes associated to Growth delay and Atopic dermatitis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Inflammatory abnormality of the skin Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ichthyosis Abnormality of the dentition Failure to thrive Eczema Seizures Abnormal facial shape High palate Gastroesophageal reflux Respiratory tract infection Hypothyroidism Recurrent infections Short neck Delayed skeletal maturation Anemia Dry skin Feeding difficulties Hearing impairment Hypertrophic cardiomyopathy Sparse hair Deep philtrum Short nose Thrombocytopenia Recurrent respiratory infections Ptosis Pruritus Hypertelorism Ventriculomegaly Cardiomyopathy Vomiting Hepatomegaly Cerebral atrophy Alopecia Atrial septal defect High forehead Anteverted nares Neutropenia Erythema Postnatal growth retardation Recurrent skin infections Blindness Lymphadenopathy Hemolytic anemia Ataxia Immunodeficiency Scoliosis Lymphopenia Abnormal intestine morphology Dysarthria

Rare Symptoms - Less than 30% cases

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


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