Delayed speech and language development, and Atopic dermatitis

Diseases related with Delayed speech and language development and Atopic dermatitis

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


Top matches:

Medium match AICARDI-GOUTIERES SYNDROME 7; AGS7

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:

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


SOURCES: UMLS MONDO OMIM

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Medium match NETHERTON SYNDROME; NETH

Netherton syndrome is a rare and severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic 'bamboo' shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia. Life-threatening complications are frequent during the neonatal period, including hypernatremic dehydration, hypothermia, extreme weight loss, bronchopneumonia, and sepsis. During childhood, failure to thrive is common as a result of malnutrition, metabolic disorders, chronic erythroderma, persistent cutaneous infections, or enteropathy (summary by Bitoun et al., 2002).

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

Related symptoms:

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


SOURCES: NCIT ORPHANET MONDO SCTID OMIM

More info about NETHERTON SYNDROME; NETH

Medium match IMMUNODEFICIENCY 23; IMD23

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.

IMMUNODEFICIENCY 23; IMD23 Is also known as immunodeficiency with hyper ige and cognitive impairment, immunodeficiency-vasculitis-myoclonus syndrome;ivms;cid due to pgm3 deficiency; combined immunodeficiency due to pgm3 deficiency; pgm3-related congenital disorder of glycosylation

Related symptoms:

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


SOURCES: MONDO GARD ORPHANET OMIM UMLS

More info about IMMUNODEFICIENCY 23; IMD23

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Other less relevant matches:

Medium match EVEN-PLUS SYNDROME; EVPLS

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; EVPLS Is also known as epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations;epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM UMLS MONDO ORPHANET

More info about EVEN-PLUS SYNDROME; EVPLS

Low match CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). The heart defects include pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy. Some patients have ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition. Typical facial characteristics include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Most cases occur sporadically, but autosomal dominant transmission has been rarely reported (Linden and Price, 2011).Roberts et al. (2006) provided a detailed review of CFC syndrome, including a discussion of the phenotypic overlap of CFC syndrome with Noonan syndrome (NS1 ) and Costello syndrome (OMIM ). Genetic Heterogeneity of Cardiofaciocutaneous SyndromeOther forms of cardiofaciocutaneous syndrome include CFC2 (OMIM ), caused by mutation in the KRAS gene (OMIM ); CFC3 (OMIM ), caused by mutation in the MAP2K1 gene (OMIM ); and CFC4 (OMIM ), caused by mutation in the MAP2K2 gene (OMIM ). The protein products of these causative genes, including BRAF, interact in a common RAS/ERK (see {601795}) pathway that regulates cell differentiation, proliferation, and apoptosis (summary by Roberts et al., 2006).

CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1 Is also known as cfc syndrome, cfcs;cfc syndrome

Related symptoms:

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


SOURCES: UMLS ORPHANET SCTID MONDO OMIM

More info about CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1

Low match IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

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
  • Pica


SOURCES: OMIM

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

Low match ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Hyperreflexia


SOURCES: MESH MONDO OMIM UMLS

More info about ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly


SOURCES: UMLS ORPHANET OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (OMIM ) and CDG Ib (OMIM ).

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F Is also known as cdg if;cdgif;cdg syndrome type if; cdg-if; cdg1f; carbohydrate deficient glycoprotein syndrome type if; congenital disorder of glycosylation type 1f; congenital disorder of glycosylation type if

Related symptoms:

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


SOURCES: MESH GARD UMLS NCIT MONDO SCTID OMIM ORPHANET

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F

Low match IMMUNODEFICIENCY 49; IMD49

IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities, scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about IMMUNODEFICIENCY 49; IMD49

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Autosomal dominant inheritance Inflammatory abnormality of the skin Short stature Autosomal recessive inheritance Feeding difficulties Eczema Ichthyosis Dry skin Ataxia Erythema Recurrent infections Congenital onset Atrial septal defect Micrognathia Immunodeficiency Pica Absent speech Alopecia High palate Microcephaly Abnormal facial shape

Rare Symptoms - Less than 30% cases


Hearing impairment Anteverted nares Scoliosis Severe combined immunodeficiency Short neck Depressed nasal bridge Cellulitis Recurrent skin infections Lymphopenia Gastroesophageal reflux Dysarthria Cognitive impairment Clonus Abnormality of the pinna Short nose Hypertonia Severe global developmental delay Thickened helices Scaling skin Failure to thrive in infancy Abnormality of vision Narrow forehead Bulbous nose Neurological speech impairment Abnormality of the eye Hyperkeratosis Macrotia Cerebral cortical atrophy Cardiomyopathy Abnormality of the dentition Intellectual disability, severe Optic atrophy Myopathy Muscular hypotonia Strabismus Nystagmus Deep philtrum Sparse hair Psoriasiform dermatitis High forehead Severe short stature Agenesis of corpus callosum Delayed skeletal maturation Allergic rhinitis Hypertelorism Recurrent respiratory infections Tetraplegia Brittle hair Hydronephrosis Spastic tetraplegia Splenomegaly Vasculitis Abnormality of the cerebral white matter Erythroderma Intrauterine growth retardation Nephrotic syndrome Fine hair Asthma Skin rash Cerebral atrophy Decreased antibody level in blood Redundant skin Ectropion Hyperextensible skin Oculomotor apraxia Optic nerve hypoplasia Relative macrocephaly Aplasia/Hypoplasia of the corpus callosum Cubitus valgus Abnormal intestine morphology Bilateral ptosis Aplasia/Hypoplasia of the eyebrow Dystonia Open bite Sparse eyebrow Biparietal narrowing Absent eyebrow Long palpebral fissure Generalized hyperpigmentation Underdeveloped supraorbital ridges Submucous cleft hard palate Curly hair Multiple cafe-au-lait spots Cutis laxa Hypotrichosis Narrow palate Peripheral axonal neuropathy Hyperhidrosis EEG abnormality Feeding difficulties in infancy Telecanthus Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Developmental regression Pectus carinatum Dolichocephaly Genu valgum Abnormality of the kidney Pulmonic stenosis Muscular hypotonia of the trunk Long face Abnormality of skin pigmentation Lymphedema Dental malocclusion Abnormality of the eyelashes Progressive visual loss Open mouth Thrombocytopenia Low posterior hairline Scarring Abnormal bleeding Bruising susceptibility Webbed neck Premature birth Full cheeks Thick vermilion border Falls Palmoplantar keratoderma Abnormal heart valve morphology Dystrophic fingernails Absent eyelashes Febrile seizures Drooling Muscle fibrillation Speech apraxia Perisylvian polymicrogyria Frontoparietal polymicrogyria Generalized hyperreflexia Gait disturbance Hyperactivity Autism Deeply set eye Small for gestational age Spasticity Autistic behavior Hypotelorism Polymicrogyria Thick lower lip vermilion Hallux valgus Small earlobe Motor delay Flexion contracture Visual impairment Apnea Abnormality of the coagulation cascade Hernia Umbilical hernia Hirsutism Short palpebral fissure Wormian bones Natal tooth Focal seizures Pruritus Hypoplasia of the zygomatic bone Generalized ichthyosis Abnormality of the ulna Woolly hair Abnormality of the gastrointestinal tract Cavernous hemangioma Gastrointestinal dysmotility Deep palmar crease Slow-growing hair Hyperextensibility of the finger joints Excessive wrinkled skin Sparse or absent eyelashes Multiple lentigines Frontal balding Patchy alopecia Optic nerve dysplasia Hypoplasia of the frontal lobes Intellectual disability, mild Anterior creases of earlobe Tongue thrusting Functional abnormality of the gastrointestinal tract Eyelid fasciculation Multiple palmar creases Multiple plantar creases Oral aversion Hepatomegaly Tremor Absence seizures Hoarse voice Bicuspid aortic valve IgA deficiency Hyperreflexia Osteopenia Prominent forehead Proptosis Vasculitis in the skin Neutropenia Lymphoma Sensory impairment Bronchiectasis Nephritis Abnormality of the hair Leukopenia Narrow palpebral fissure Glomerulonephritis Combined immunodeficiency Sparse scalp hair Membranoproliferative glomerulonephritis Autoimmune neutropenia Cortical myoclonus Sparse and thin eyebrow Unilateral narrow palpebral fissure Malabsorption Chilblains Serositis Midface retrusion Progressive spastic paraplegia Dilatation Pericardial effusion Brachycephaly Basal ganglia calcification Increased antibody level in blood Neonatal hypotonia Toe walking Hemolytic anemia Abnormality of the nervous system Anal atresia Hypernatremic dehydration Papilloma Irregular hyperpigmentation Congenital ichthyosiform erythroderma Severe postnatal growth retardation Villous atrophy Verrucae Trichorrhexis nodosa Congenital nonbullous ichthyosiform erythroderma Increased IgE level Angioedema Congenital bullous ichthyosiform erythroderma Immunologic hypersensitivity Hypernatremia Emphysema Respiratory tract infection Ectopic kidney Intracranial hemorrhage Sensorineural hearing impairment Urticaria Anemia Sparse eyelashes Acanthosis nigricans Brachydactyly Abnormality of the skeletal system Hyporeflexia Aminoaciduria Myoclonus Dehydration Conductive hearing impairment Postnatal growth retardation Spastic tetraparesis Abnormal heart morphology Abnormality of cardiovascular system morphology Nevus Downslanted palpebral fissures Myopia Macrocephaly Tics Frontal bossing Edema Paraplegia Hydrocephalus Abnormality of eye movement Lymphadenopathy Long philtrum Malar flattening Pectus excavatum Low-set ears Vomiting Congestive heart failure Clinodactyly of the 5th finger Encephalopathy Polyhydramnios Upslanted palpebral fissure Spastic paraplegia Constipation Posteriorly rotated ears Oxycephaly Abnormality of the musculature Abnormality of the genital system Coarse facial features Irritability Epicanthus Brain atrophy Microtia Abnormality of the outer ear Synophrys Flat face Highly arched eyebrow Hypodontia Vesicoureteral reflux Renal hypoplasia Oligohydramnios Depressed nasal ridge Recurrent urinary tract infections Epiphyseal dysplasia Short long bone Patent foramen ovale Metaphyseal dysplasia Overlapping toe Cryptorchidism Aplasia cutis congenita Hypoplasia of the odontoid process Bifid nasal tip Coronal cleft vertebrae Anotia Dysplastic corpus callosum Hypoplastic helices Vertebral clefting Dysplasia of the femoral head Progressive microcephaly Lower limb spasticity Progressive neurologic deterioration Tetraparesis Ptosis Pulmonary artery stenosis



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 Carious teeth, related diseases and genetic alterations Visual impairment and Apraxia, related diseases and genetic alterations High palate and Long philtrum, related diseases and genetic alterations Low-set ears and Skeletal dysplasia, related diseases and genetic alterations Muscular hypotonia and Abnormality of skin pigmentation, related diseases and genetic alterations Microcephaly and Progressive visual loss, related diseases and genetic alterations

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