Delayed speech and language development, and Squamous cell carcinoma
Diseases related with Delayed speech and language development and Squamous cell carcinoma
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Squamous cell carcinoma that can help you solving undiagnosed cases.
Top matches:
Medium match TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).
TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as trichothiodystrophy, photosensitive;ttdp, ichthyosiform erythroderma with hair abnormality and mental and growth retardation, tay syndrome, trichothiodystrophy with congenital ichthyosis;ichthyosis, congenital, with trichothiodystrophy, pibids syndrome
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Global developmental delay
- Short stature
- Pica
More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1
Low match XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).
XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES: ORPHANET
More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEXLow match PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES
Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927).
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as olmsted syndrome;olms;mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; olmsted syndrome; palmoplantar and periorificial keratoderma
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
SOURCES: OMIM UMLS ORPHANET MONDO
More info about PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES
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Low match KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT Is also known as kid syndrome, autosomal dominant;ichthyosis hystrix rheydt type; kid/hid syndrome; keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome; senter syndrome
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Short stature
- Hearing impairment
- Sensorineural hearing impairment
SOURCES: UMLS OMIM ORPHANET MONDO DOID SCTID
More info about KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANTLow match IMMUNODEFICIENCY 31C; IMD31C
Immunodeficiency-31C is an autosomal dominant disorder of immunologic dysregulation with highly variable manifestations. Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG )-mediated inflammation (summary by Uzel et al., 2013 and Sampaio et al., 2013).
IMMUNODEFICIENCY 31C; IMD31C Is also known as candidiasis, familial, 7;candf7, candidiasis, familial chronic mucocutaneous, autosomal dominant;
Related symptoms:
- Autosomal dominant inheritance
- Global developmental delay
- Short stature
- Growth delay
- Anemia
SOURCES: UMLS ORPHANET OMIM GARD MONDO
More info about IMMUNODEFICIENCY 31C; IMD31CLow 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).
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; DKCA1Low match DYSKERATOSIS CONGENITA, X-LINKED; DKCX
Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).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, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by Walne et al., 2013).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).
DYSKERATOSIS CONGENITA, X-LINKED; DKCX Is also known as zinsser-cole-engman syndrome;progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM GARD SCTID MESH MONDO
More info about DYSKERATOSIS CONGENITA, X-LINKED; DKCXLow match PAPILLON-LEFEVRE SYNDROME; PALS
Papillion-Lefevre syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, periodontitis, and premature loss of dentition (summary by Lefevre et al., 2001).
PAPILLON-LEFEVRE SYNDROME; PALS Is also known as pls, keratosis palmoplantaris with periodontopathia;keratosis palmoplantar-periodontopathy syndrome; pls
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Pica
- Neoplasm
- Abnormality of the dentition
SOURCES: MONDO GARD ORPHANET NCIT DOID UMLS MESH OMIM SCTID
More info about PAPILLON-LEFEVRE SYNDROME; PALSLow match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB
For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB Is also known as xp, group b;xpbc
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
SOURCES: OMIM MONDO SCTID GARD MESH UMLS NCIT DOID
More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPBLow match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome (OMIM ) (Satokata et al., 1992).See also XPB (OMIM ), XPC (OMIM ), XPD (OMIM ), XPE (OMIM ), XPF (OMIM ), XPG (OMIM ), and variant XP (XPV ).
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA Is also known as xp, group a, xeroderma pigmentosum i;xp1
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Pica
- Microcephaly
- Scoliosis
SOURCES: UMLS GARD NCIT DOID OMIM SCTID MONDO
More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPATop 5 symptoms//phenotypes associated to Delayed speech and language development and Squamous cell carcinoma
| Symptoms // Phenotype | % cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Neoplasm | Common - Between 50% and 80% cases |
| Short stature | Common - Between 50% and 80% cases |
| Carcinoma | Common - Between 50% and 80% cases |
| Nail dystrophy | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Delayed speech and language development and Squamous cell carcinoma. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Neoplasm of the skin
Uncommon Symptoms - Between 30% and 50% cases
Global developmental delay
Common Symptoms - More than 50% cases
Hearing impairment
Uncommon Symptoms - Between 30% and 50% cases
Dermal atrophy Melanoma Microcephaly Alopecia Abnormality of the dentition Ataxia Tics Carious teeth Cutaneous photosensitivity Nail dysplasia Hyperkeratosis Palmoplantar keratoderma Sensorineural hearing impairment Autosomal dominant inheritance Squamous cell carcinoma of the skin Autosomal recessive inheritance Sparse hair Anemia Pica Oral leukoplakia Growth delay Cataract Optic atrophy Cerebral calcification Bone marrow hypocellularity Recurrent respiratory infections Thrombocytopenia Premature loss of teeth Basal cell carcinoma Delayed skeletal maturation Keratitis Osteoporosis Conjunctivitis Erythema Cerebellar hypoplasia Hyperhidrosis Osteolysis Skin ulcer Abnormality of the fingernails Fine hair Ichthyosis Photophobia
Rare Symptoms - Less than 30% cases
Ranula Scarring Dry skin Abnormality of coagulation Severe short stature Malabsorption Eczema Immunodeficiency Diabetes mellitus Hepatosplenomegaly Seizures Recurrent skin infections Premature graying of hair Flexion contracture Hypodontia Small for gestational age Periodontitis Generalized osteoporosis Ridged nail Urethral stenosis Keratoconjunctivitis Aplastic anemia Hypogonadism Telangiectasia Sepsis Thickened skin Inflammatory abnormality of the skin Abnormality of the eyelashes Abnormality of the tongue Blepharitis Microphthalmia Pulmonary fibrosis Acrania Poikiloderma Hyporeflexia Intrauterine growth retardation Splenomegaly Cirrhosis Trichorrhexis nodosa Progeroid facial appearance Corneal neovascularization Nevus Scoliosis Visual impairment Keratoconjunctivitis sicca Nystagmus Cryptorchidism Recurrent infections Spasticity Macule Pneumonia Hypopigmented skin patches Sparse eyelashes Myelodysplasia Freckling Lymphopenia Strabismus Urticaria Ventriculomegaly Reticular hyperpigmentation Hyperpigmentation of the skin Retinopathy Pancytopenia Pili torti Absent lacrimal punctum Esophageal stenosis Displacement of the external urethral meatus Palmar hyperkeratosis Abnormality of neutrophils Congenital bullous ichthyosiform erythroderma Choreoathetosis Anorectal anomaly Aplastic/hypoplastic toenail Rough bone trabeculation Porokeratosis Nail pits Abnormality of the testis Interstitial pneumonitis Choroid plexus calcification Abnormality of the pharynx Fibroma Susceptibility to herpesvirus Esophageal carcinoma Oropharyngeal squamous cell carcinoma Medial calcification of large arteries Abnormal serum interferon-gamma level Hepatomegaly Hypoplasia of the maxilla Recurrent fractures Hepatic failure Specific learning disability Lymphoma Abnormal blistering of the skin Skin vesicle Tracheoesophageal fistula Cellular immunodeficiency Aplasia/Hypoplasia of the skin Telangiectasia of the skin Hypermelanotic macule Entropion Neurofibromas Aseptic necrosis Taurodontia Ectropion Neoplasm of the pancreas Abnormal vertebral morphology Abnormal eyebrow morphology Abnormality of female internal genitalia White hair Generalized hypotonia Leukemia Failure to thrive Reticulated skin pigmentation Anal mucosal leukoplakia Brittle scalp hair Intellectual disability, severe Cerebellar atrophy Fragile teeth Abnormal leukocyte morphology Retinal degeneration Pancreatic adenocarcinoma Split nail Opportunistic infection Pigmentary retinopathy Abnormality of the cardiovascular system Gastric ulcer Decreased nerve conduction velocity Lacrimal duct stenosis Basal ganglia calcification Pterygium of nails Generalized hypopigmentation of hair Increased cellular sensitivity to UV light Scaling skin Recurrent cutaneous abscess formation Cigarette-paper scars Liver abscess Premature loss of primary teeth Gingivitis Pustule Sparse body hair Palmoplantar hyperkeratosis Hyperreflexia Reduced number of teeth Generalized hirsutism Abnormality of the nail Hypertrichosis Chronic furunculosis Atrophy of alveolar ridges Arachnodactyly Cutaneous melanoma Excessive wrinkled skin Hypertonia Severe periodontitis Sparse scalp hair Decreased fetal movement Hypopigmentation of the skin Oligohydramnios Gastrointestinal hemorrhage Decreased testicular size Gliosis Abnormality of skin pigmentation Horseshoe kidney Postnatal growth retardation Muscular hypotonia of the trunk Cerebral cortical atrophy Polyhydramnios X-linked recessive inheritance Respiratory distress Hypospadias Truncal ataxia Mental deterioration Esophageal stricture Carotid artery dilatation Oral ulcer Chromosome breakage Myeloid leukemia Hodgkin lymphoma Epiphora Abnormal CNS myelination Acute myeloid leukemia Intestinal bleeding Leukopenia Generalized hyperpigmentation Restrictive ventilatory defect Increased antibody level in blood Flared metaphysis Phimosis Neonatal respiratory distress Anosmia Recurrent Aspergillus infections Abnormality of corneal stroma Functional abnormality of the bladder Pain Epidermal acanthosis Ectodermal dysplasia Papule Pruritus Corneal opacity Joint laxity Motor delay Opacification of the corneal stroma Numerous pigmented freckles Abnormality of amino acid metabolism Arteriosclerosis Demyelinating peripheral neuropathy Prematurely aged appearance Cachexia Hypotrichosis Cutis laxa Confusion Amniotic constriction ring Palmoplantar hyperhidrosis Subungual hyperkeratosis Abnormal cornea morphology Abnormal oral mucosa morphology Alopecia universalis Hidrotic ectodermal dysplasia Hypergranulosis Mutism Ankylosis Parakeratosis Plantar hyperkeratosis Neoplasm of the lung Anhidrosis Curly hair Papilloma Diplopia Skin rash Ainhum Small nail Dysphonia Macular degeneration Increased bone mineral density Chronic diarrhea Abnormality of the face Asthma Decreased antibody level in blood Abnormality of the thorax Microcornea Protruding ear Retrognathia Babinski sign Areflexia Cognitive impairment Brittle hair Spastic diplegia Hydrocephalus Fragile nails Dysarthria Lack of subcutaneous fatty tissue Jerky ocular pursuit movements Titubation Congenital nonbullous ichthyosiform erythroderma Abnormality of hair texture Woolly hair Erythroderma Alopecia of scalp Congenital ichthyosiform erythroderma IgG deficiency Hyperactive deep tendon reflexes Nuclear cataract Intestinal obstruction Decreased fertility Abnormality of the gingiva Autoamputation Autoimmune neutropenia Hemolytic anemia Type I diabetes mellitus Leukoencephalopathy Purpura Bronchiectasis Pulmonary arterial hypertension Hepatitis Delayed puberty Recurrent upper respiratory tract infections Autoimmunity Osteopenia Hypothyroidism Dilatation Encephalopathy Congestive heart failure Diarrhea Patent foramen ovale Encephalitis Trichiasis Enterocolitis Renovascular hypertension Renal artery stenosis Antiphospholipid antibody positivity B lymphocytopenia Primary hypothyroidism Immune dysregulation Chronic mucocutaneous candidiasis Abnormal intestine morphology Villous atrophy Abnormality of the endocrine system Thyroiditis Dilatation of the cerebral artery Pulmonary embolism Autoimmune thrombocytopenia Autoimmune hemolytic anemia Trichilemmal cyst Moderate hearing impairment Foot pain Arthritis Aganglionic megacolon Hypohidrosis Sparse and thin eyebrow Progressive visual loss Delayed eruption of teeth Severe global developmental delay Visual loss Knee flexion contracture Pes cavus Blindness Milia Skin fissure Anal fissure Circumungual hyperkeratosis Agenesis of premolar Elbow flexion contracture Reduced tendon reflexes Crackles Furrowed tongue Recurrent bacterial skin infections Generalized hyperkeratosis Corneal scarring Corneal ulceration Recurrent corneal erosions Dystrophic fingernails Dystrophic toenail Hemiplegia/hemiparesis Hypoplastic fingernail Corneal erosion Absent eyebrow Congenital sensorineural hearing impairment Aplasia/Hypoplasia of the eyebrow Cellulitis Hypoplastic toenails Defective DNA repair after ultraviolet radiation damage
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