Delayed speech and language development, and Abnormal blistering of the skin

Diseases related with Delayed speech and language development and Abnormal blistering of the skin

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


Top matches:

Medium match LIPOID PROTEINOSIS OF URBACH AND WIETHE

Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003).

LIPOID PROTEINOSIS OF URBACH AND WIETHE Is also known as lipoid proteinosis, urbach-wiethe disease, hyalinosis cutis et mucosae;hyalinosis cutis et mucosae; urbach-wiethe disease

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Pica
  • High palate


SOURCES: SCTID MESH GARD DOID OMIM NCIT UMLS ORPHANET MONDO

More info about LIPOID PROTEINOSIS OF URBACH AND WIETHE

Low match CHROMOSOME 1p36 DELETION SYNDROME

The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003).See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH ), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (OMIM ) on proximal chromosome 1p36.

CHROMOSOME 1p36 DELETION SYNDROME Is also known as monosomy 1p36 syndrome;del(1)(p36); deletion 1p36; deletion 1pter; monosomy 1p36; monosomy 1pter; subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: GARD UMLS ORPHANET MONDO SCTID DOID OMIM NCIT MESH

More info about CHROMOSOME 1p36 DELETION SYNDROME

Low match HARTNUP DISORDER; HND

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISORDER; HND Is also known as hartnup disease;aminoaciduria, hartnup type; hartnup disorder

Related symptoms:

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


SOURCES: SCTID MONDO OMIM MESH NCIT ICD10 GARD ORPHANET DOID

More info about HARTNUP DISORDER; HND

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Other less relevant matches:

Low match INCONTINENTIA PIGMENTI

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome; bloch-sulzberger syndrome

Related symptoms:

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


SOURCES: ORPHANET SCTID

More info about INCONTINENTIA PIGMENTI

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1

Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, among others (review by Bessler et al., 2007 and Bessler et al., 2010).Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by Walne et al., 2013). Genetic Heterogeneity of Dyskeratosis Congenita and Hoyeraal-Hreidarsson SyndromeDyskeratosis congenita is a genetically heterogeneous disorder, showing autosomal recessive, autosomal dominant, and X-linked inheritance. Additional autosomal dominant forms include DKCA2 (OMIM ), caused by mutation in the TERT gene (OMIM ) on chromosome 5p15; DKCA3 (OMIM ), caused by mutation in the TINF2 gene (OMIM ) on chromosome 14q12; DKCA4 (see {615190}), caused by mutation in the RTEL1 gene (OMIM ) on chromosome 20q13, DKCA5 (OMIM ), caused by mutation in the TINF2 gene (OMIM ) on chromosome 14q12, and DKCA6 (OMIM ), caused by mutation in the ACD gene (OMIM ) on chromosome 16q22.Autosomal recessive forms include DKCB1 (OMIM ), caused by mutation in the NOLA3 gene (OMIM ) on chromosome 15q14; DKCB2 (OMIM ), caused mutation in the NOLA2 gene (OMIM ) on chromosome 5q35; DKCB3 (OMIM ), caused by mutation in the TCAB1 gene (WRAP53 ) on chromosome 17p13; DKCB4 (see {613989}), caused by mutation in the TERT gene; DKCB5 (OMIM ), caused by mutation in the RTEL1 gene (OMIM ) on chromosome 20q13; DKCB6 (OMIM ), caused by mutation in the PARN gene (OMIM ) on chromosome 16p13; and DKCB7 (see {616553}), caused by mutation in the ACD gene (OMIM ) on chromosome 16q22. X-linked recessive DKCX (OMIM ) is caused by mutation in the dyskerin gene (DKC1 ) on Xq28.Hoyeraal-Hreidarsson syndrome, the severe clinical variant of DKC, can be caused by mutation in several different DKC-associated genes; see, e.g., DKC1 (OMIM ), TINF2 (OMIM ), TERT (OMIM ), and RTEL1 (OMIM ).See also adult-onset telomere-related pulmonary fibrosis and/or bone marrow failure-1 and -2 (PFBMFT1, {614742} and PFBMFT2, {614743}), which are caused by mutations in the TERT and TERC genes, respectively. These disorders share some features of DKC, but show later onset and do not have skin abnormalities. The disorders related to telomere shortening are part of a phenotypic spectrum.Mutation in the CTC1 gene (OMIM ) on chromosome 17p13 causes cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), another telomere-related disorder with overlapping features of DKC.

DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1 Is also known as dyskeratosis congenita, scoggins type;dc; dkc; zinsser-engman-cole syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Hearing impairment


SOURCES: MONDO SCTID DOID UMLS OMIM GARD ORPHANET MESH

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1

Low match PORPHYRIA VARIEGATA

Variegate porphyria is characterized by cutaneous manifestations, including increased photosensitivity, blistering, skin fragility with chronic scarring of sun-exposed areas, and postinflammatory hyperpigmentation. Acute exacerbations of VP include abdominal pain, the passage of dark urine, and neuropsychiatric symptoms that characterize the acute hepatic porphyrias, such as bulbar paralysis, quadriplegia, motor neuropathy, and weakness of the limbs. In heterozygotes, PPOX activity is decreased by about 50% (summary by Frank et al., 1998).

PORPHYRIA VARIEGATA Is also known as variegate porphyria;vp, porphyria, south african type, protoporphyrinogen oxidase deficiency, ppox deficiency;protoporphyrinogen oxidase deficiency; variegate porphyria

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay


SOURCES: MESH ORPHANET OMIM NCIT UMLS SCTID MONDO DOID GARD

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Low match ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1

The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1 Is also known as erythrokeratodermia variabilis et progressiva;ekvp, erythrokeratodermia variabilis;ekv, erythrokeratodermia, progressive symmetric;psek, erythrokeratodermia figurata, congenital familial, in plaques, erythrokeratodermia variabilis with erythema gyratum repens;ekv; erythrokeratodermia variabilis, mendes da costa type

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Hearing impairment


SOURCES: OMIM MONDO ORPHANET

More info about ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1

Low match INCONTINENTIA PIGMENTI; IP

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

INCONTINENTIA PIGMENTI; IP Is also known as incontinentia pigmenti, familial male-lethal type, bloch-sulzberger syndrome, incontinentia pigmenti, type ii, formerly;ip2, formerly;nevus fuscocaeruleus acromiodeltoideus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Pica
  • Microcephaly


SOURCES: OMIM ORPHANET

More info about INCONTINENTIA PIGMENTI; IP

Low match BEHCET SYNDROME

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHCET SYNDROME Is also known as behcet disease;bd;

Related symptoms:

  • Seizures
  • Ataxia
  • Cataract
  • Hyperreflexia
  • Splenomegaly


SOURCES: OMIM UMLS SCTID MONDO MESH COHD GARD NCIT DOID ORPHANET ICD9 ICD10 EFO

More info about BEHCET SYNDROME

Low match CRANIOSYNOSTOSIS 7; CRS7

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

CRANIOSYNOSTOSIS 7; CRS7 Is also known as craniosynostosis 7, digenic, crs7, digenic

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Delayed speech and language development
  • Craniosynostosis
  • Neurodevelopmental delay


SOURCES: MONDO UMLS OMIM

More info about CRANIOSYNOSTOSIS 7; CRS7

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Abnormal blistering of the skin

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Alopecia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hyperkeratosis Hypopigmented skin patches Strabismus Gait disturbance Skin rash Malabsorption Autosomal dominant inheritance Erythema Pica Encephalitis Hearing impairment Microcephaly Scoliosis Nystagmus Muscular hypotonia Hypodontia Cutaneous photosensitivity Visual impairment Hyperhidrosis Macule Ataxia Irregular hyperpigmentation Autosomal recessive inheritance Hypertrichosis Papule Scarring Tics

Rare Symptoms - Less than 30% cases


Retinal hemorrhage Aseptic necrosis Absent speech Aggressive behavior Psychosis Migraine Cirrhosis Abnormality of the skin Anxiety Photophobia Hypermelanotic macule Hyperreflexia Cerebral calcification Ridged nail Skin vesicle Abnormality of the testis Nail pits Abnormal eyebrow morphology Abdominal pain Nausea and vomiting Confusion Verrucae Weight loss Abnormality of vision Cranial nerve paralysis Generalized hirsutism Fever Hepatic steatosis Neoplasm of the skin Hyperpigmentation of the skin EEG abnormality Abnormality of the nail Supernumerary ribs Cerebral ischemia Retinal vascular proliferation High palate Neoplasm Uveitis Telangiectasia of the skin Keratitis Supernumerary nipple Eosinophilia Splenomegaly Abnormality of the fingernails Abnormality of the dentition Skin ulcer Recurrent respiratory infections Abnormality of the hair Diabetes mellitus Delayed eruption of teeth Abnormality of skin pigmentation Retinal detachment Corneal opacity Sparse hair Nail dystrophy Dysphagia Microphthalmia Spasticity Palmoplantar keratoderma Nail dysplasia Camptodactyly of finger Hemiplegia/hemiparesis Cerebral cortical atrophy Abnormality of the skeletal system Memory impairment Optic atrophy Cognitive impairment Subcutaneous nodule Hallucinations Constipation Failure to thrive Hydrocephalus Growth delay Acne Fragile skin Brachydactyly Pustule Behavioral abnormality Abnormality of cardiovascular system morphology Tracheoesophageal fistula Pulmonary fibrosis Increased intracranial pressure Meningitis White hair Pleural effusion Myelodysplasia Fibroma Premature graying of hair Cellular immunodeficiency Dermal atrophy Decreased level of D-mannose in urine Bone marrow hypocellularity Glomerulopathy Keratoconjunctivitis sicca Abnormality of female internal genitalia Genital ulcers Venous thrombosis Abnormality of coagulation Anorexia Abnormality of the eyelashes Vasculitis Blepharitis Neurofibromas Neoplasm of the pancreas Premature loss of teeth Taurodontia Periodontitis Aortic regurgitation Aplasia/Hypoplasia of the skin Aplastic anemia Epididymitis Oral leukoplakia Pancreatitis Arthralgia Lymphopenia Hepatomegaly Thrombocytopenia Orchitis Recurrent aphthous stomatitis Intrauterine growth retardation Iritis Pleuritis Alopecia areata Immunologic hypersensitivity Cerebellar hypoplasia Abnormal myocardium morphology Anemia Optic neuritis Chorioretinitis Iridocyclitis Broad nail Ridged fingernail Increased inflammatory response Arterial thrombosis Osteoporosis Pericarditis Myositis Pancytopenia Lymphoma Hemiparesis Specific learning disability Pulmonary embolism Hepatic failure Recurrent fractures Gangrene Superficial thrombophlebitis Hypoplasia of the maxilla Craniosynostosis Pulmonary infiltrates Carious teeth Hemoptysis Raynaud phenomenon Oral ulcer Retrobulbar optic neuritis Abnormality of the pharynx Urethral stenosis Squamous cell carcinoma of the skin Visual loss Lymphedema Fine hair X-linked dominant inheritance Ectodermal dysplasia Hypopigmentation of the skin Tetraplegia Pallor Kyphoscoliosis Recurrent infections Hemivertebrae Immunodeficiency Retinopathy Nevus Ptosis Diffuse palmoplantar hyperkeratosis Patchy palmoplantar keratoderma Generalized hyperkeratosis Diffuse palmoplantar keratoderma Increased bone mineral density Coarse hair Hypergranulosis Hypohidrotic ectodermal dysplasia Fatigue Renal insufficiency Blindness Atrophic, patchy alopecia Hyperpigmented streaks Myalgia Retinal neovascularization Scarring alopecia of scalp Breast aplasia Hyperostosis Abnormal pyramidal sign Generalized osteosclerosis Breast hypoplasia Conical tooth Thick nail Anodontia Hypoplasia of the fovea Hypoplastic nipples Abnormality of the vasculature Abnormal hand morphology Plantar hyperkeratosis Interstitial pneumonitis Absent lacrimal punctum Clinodactyly Depressivity Vomiting Hypertension Pain Peripheral neuropathy Muscle weakness Esophageal stenosis Displacement of the external urethral meatus Mitral regurgitation Palmar hyperkeratosis Reticular hyperpigmentation Anorectal anomaly Porokeratosis Rough bone trabeculation Aplastic/hypoplastic toenail Congenital bullous ichthyosiform erythroderma Abnormality of neutrophils Arthritis Myocardial infarction Tachycardia Scaling skin Protruding ear Developmental regression Palmoplantar hyperkeratosis Epidermal acanthosis Tapered finger Dry skin Irritability Lymphadenopathy Paresthesia Glaucoma Paralysis Infantile onset Vertigo Porphyrinuria Premature adrenarche Visual hallucinations Motor polyneuropathy Aspiration Thin skin Gastrointestinal hemorrhage Endocarditis Glossitis Absent hand Hydronephrosis Deeply set eye Microtia Neurological speech impairment Camptodactyly Coloboma Low-set, posteriorly rotated ears Blepharophimosis Joint stiffness Sporadic Feeding difficulties in infancy Abnormality of the liver Conductive hearing impairment Autism Gastroesophageal reflux Hypothyroidism Hypogonadism Mandibular prognathia Prominent forehead Narrow mouth Brachycephaly Synophrys Abnormal cardiac septum morphology Upslanted palpebral fissure Tetralogy of Fallot Heterotopia Wide anterior fontanel Hepatitis Hypsarrhythmia Pachygyria Depressed nasal ridge Tetraparesis Optic disc pallor Hip dysplasia Hypoplasia of penis Cleft upper lip Delayed myelination Bifid uvula Poor speech Short foot Polymicrogyria Hypermetropia Renal cyst Dilated cardiomyopathy Abnormality of the kidney Posteriorly rotated ears Agenesis of corpus callosum Stereotypy Abnormal oral mucosa morphology Sensorineural hearing impairment Hypertelorism Generalized hypotonia Bilateral intracranial calcifications White papule Tongue nodules Abnormality of the gingiva Patchy alopecia Paranoia Nasal polyposis Abnormal facial shape Microglossia Alopecia of scalp Delusions Hoarse voice Thickened skin Thick lower lip vermilion Acrania Carcinoma Dystonia Motor delay Cryptorchidism Pes cavus Cardiomyopathy Obesity Patent ductus arteriosus Delayed skeletal maturation Clinodactyly of the 5th finger Midface retrusion Hypospadias Malar flattening Kyphosis Long philtrum Hypoplasia of the corpus callosum Myopathy Ventricular septal defect Ventriculomegaly Frontal bossing Wide nasal bridge Myopia Downslanted palpebral fissures Epicanthus Depressed nasal bridge Low-set ears Telangiectasia Pointed chin Abnormal chorioretinal morphology Chronic diarrhea Methylmalonic aciduria Episodic ataxia Bruxism Insomnia Gingivitis Emotional lability Diplopia Aminoaciduria Inflammatory abnormality of the skin Eczema Abnormal urinary color Aciduria Abnormality of the eye Gait ataxia Diarrhea Hypertonia Agenesis of the anterior commissure Ebstein anomaly of the tricuspid valve Abnormality of the hairline Noncompaction cardiomyopathy Neural tube defect Hyperphenylalaninemia Oppositional defiant disorder Abnormality of dental enamel Asymmetric growth Deviation of finger Dystrophic toenail Abnormal toenail morphology Hypoplastic fingernail Hearing abnormality Abnormality of immune system physiology Abnormality of dental morphology Spina bifida occulta Osteolysis Grasp reflex Pulmonary arterial hypertension Blue sclerae Oral cleft Attention deficit hyperactivity disorder Finger syndactyly Umbilical hernia Congestive heart failure Neutral hyperaminoaciduria Glabellar reflex Bifid ribs Asymmetry of the ears Spastic tetraparesis Self-injurious behavior Abnormal heart valve morphology High hypermetropia Congenital hypothyroidism Abnormal lung lobation Infantile spasms Submucous cleft hard palate Absent septum pellucidum Polyphagia Facial cleft Dysphasia Spinal canal stenosis Abnormality of the immune system Delayed cranial suture closure Abnormal intestine morphology Metatarsus adductus Patent foramen ovale Pyloric stenosis Leukoencephalopathy Bicuspid aortic valve Hypercholesterolemia Foot polydactyly Neuroblastoma Cranial nerve VI palsy 11 pairs of ribs Aortic arch aneurysm Annular pancreas Abnormality of the anus Horizontal eyebrow Impaired social interactions Abnormality of female external genitalia Abnormality of the spleen Left ventricular noncompaction Thickened helices Rib fusion Overweight Delayed CNS myelination Dilation of lateral ventricles Delayed closure of the anterior fontanelle Self-mutilation Lower limb asymmetry Optic nerve coloboma Abnormality of the neck Short 5th finger Ocular albinism Aortic root aneurysm Neurodevelopmental delay


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