Carcinoma, and Severe global developmental delay

Diseases related with Carcinoma and Severe global developmental delay

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


Top matches:

High match KID SYNDROME


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.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

High match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6

High match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

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Other less relevant matches:

High match ABETALIPOPROTEINEMIA


Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

High match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

High match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

High match ACUTE INTERMITTENT PORPHYRIA


Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

ACUTE INTERMITTENT PORPHYRIA Is also known as ups deficiency|porphyria, swedish type|pbgd deficiency|porphobilinogen deaminase deficiency|uroporphyrinogen synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACUTE INTERMITTENT PORPHYRIA

High match CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

High match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

High match FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS


Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Top 5 symptoms//phenotypes associated to Carcinoma and Severe global developmental delay

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Severe global developmental delay. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Blepharophimosis Coarse facial features Failure to thrive Diarrhea Microcephaly Growth delay Hearing impairment

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Thrombocytopenia Ptosis Depressed nasal bridge Clinodactyly Epicanthus Anteverted nares Ataxia Peripheral neuropathy Fever Bone marrow hypocellularity Polydactyly Abnormality of the liver Agenesis of corpus callosum Vomiting Hepatocellular carcinoma Short stature Lethargy Weight loss Coma Paraparesis Ventriculomegaly Hepatic failure Cognitive impairment Spasticity Nystagmus Hypertelorism Microphthalmia Renal cell carcinoma Hemiplegia/hemiparesis Chronic diarrhea Oral leukoplakia Smooth philtrum Sparse hair Pain Cerebellar hypoplasia Nail dystrophy Cryptorchidism Visual impairment Abnormality of the dentition Hyperhidrosis Nail dysplasia Reduced tendon reflexes Abnormal urinary color Chromosome breakage Urinary retention Diaphragmatic paralysis Ileus Dysuria Thick upper lip vermilion Insomnia Agitation Apathy Hyponatremia Delirium Hypertensive crisis Psychotic episodes Hyperlipidemia Respiratory paralysis Ovarian neoplasm Paralytic ileus Proximal placement of thumb Elevated urinary delta-aminolevulinic acid Breast carcinoma Red urine Acute episodes of neuropathic symptoms Narrow palate Cataract Syndactyly Low anterior hairline Brachycephaly Cranial nerve paralysis Alkalosis Hallucinations Duodenal stenosis Constipation Arrhythmia Depressivity Renal insufficiency Intellectual disability, mild Behavioral abnormality Hypertension Arthralgia Muscle weakness Impaired memory B cell generation IgE deficiency Opportunistic infection Agranulocytosis Enlarged tonsils Abdominal pain Hepatosplenomegaly Anorexia Tachycardia Cutaneous photosensitivity Long eyelashes Stomach cancer Urinary incontinence Abdominal distention Nephropathy Macrodontia Myalgia Nausea Stage 5 chronic kidney disease Paresthesia Nausea and vomiting Paralysis Anxiety Psychosis Coloboma Craniosynostosis Anterior plagiocephaly Edema Episodic vomiting Abnormality of thumb phalanx Duplication of thumb phalanx Hemimegalencephaly Cutaneous syndactyly of toes Medulloblastoma Cerebral atrophy Optic nerve coloboma Wide nasal base Paranoia Oroticaciduria Respiratory alkalosis Hypoargininemia Headache Abnormality of cardiovascular system morphology Protein avoidance Postaxial polydactyly Hyperammonemia Pancreatitis Episodic ataxia Thick lower lip vermilion Aciduria Gliosis Confusion Cerebral edema Stroke Irritability Mental deterioration Thin upper lip vermilion Abnormal heart morphology Encephalopathy Hypospadias Chronic constipation Arnold-Chiari type I malformation Dental malocclusion Hip dislocation Intestinal malrotation Upslanted palpebral fissure Microcornea Conductive hearing impairment Iris coloboma Prominent nasal bridge Hirsutism Broad thumb Hypopigmentation of the skin Polymicrogyria Facial asymmetry Toe syndactyly Finger syndactyly Acute hepatic failure Abnormality of the skin Horizontal nystagmus Foot polydactyly Preaxial hand polydactyly Anal stenosis Cutaneous finger syndactyly Hyperglutaminemia Aplasia/Hypoplasia of the skin Episodic ammonia intoxication Basal cell carcinoma Low plasma citrulline Generalized hirsutism Preaxial polydactyly Abnormal facial shape Delayed speech and language development Impaired Ig class switch recombination Bilateral ptosis Hypopigmented skin patches Narrow palpebral fissure Absence of lymph node germinal center Decreased antibody level in blood Decreased T cell activation Dystrophic toenail Abnormality of the tongue Recurrent corneal erosions Corneal neovascularization Dystrophic fingernails Hypoplastic fingernail Furrowed tongue Corneal erosion Keratoconjunctivitis Abnormal eyelash morphology Alopecia of scalp Keratoconjunctivitis sicca Severe hearing impairment Cellulitis Macule Squamous cell carcinoma of the skin Corneal scarring Squamous cell carcinoma Esophageal stenosis Joint hypermobility Narrow mouth Long philtrum Wide nasal bridge Feeding difficulties Micrognathia Esophageal stricture Recurrent bacterial skin infections Aplastic anemia Pancytopenia Abnormality of corneal stroma Trichiasis Moderate hearing impairment Corneal ulceration Generalized hyperkeratosis Aplasia/Hypoplasia of the eyebrow Hypoplastic toenails Bulbous nose Photophobia Ichthyosis Carious teeth Scarring Erythema Arthritis Hyperkeratosis Delayed eruption of teeth Pes cavus Alopecia Delayed skeletal maturation Visual loss Blindness Sensorineural hearing impairment Palmoplantar keratoderma Progressive visual loss Absent eyebrow Sparse eyelashes Keratitis Congenital sensorineural hearing impairment Scaling skin Urticaria Neoplasm of the skin Osteolysis Conjunctivitis Fine hair Knee flexion contracture Elbow flexion contracture Skin ulcer Sparse and thin eyebrow Hypohidrosis Thickened skin Aganglionic megacolon Thin vermilion border Triangular face Cholangiocarcinoma Recurrent infections Otitis media Sepsis Neutropenia Neurodegeneration Hemolytic anemia Autoimmunity Immunodeficiency Choreoathetosis Splenomegaly Dysarthria Hepatomegaly Noncommunicating hydrocephalus Corticospinal tract hypoplasia Flexion contracture of thumb Recurrent otitis media Clumsiness Aqueductal stenosis Cholangitis Sclerosing cholangitis Increased IgM level Dysgammaglobulinemia Chronic hepatitis IgM deficiency Stomatitis Agammaglobulinemia Involuntary movements Gingivitis Recurrent lower respiratory tract infections IgG deficiency IgA deficiency Encephalitis Leukoencephalopathy Recurrent bacterial infections Clear cell renal cell carcinoma Absent septum pellucidum Prominent nose Retinal degeneration Fat malabsorption Acanthocytosis Abnormality of the coagulation cascade Abnormality of retinal pigmentation Peripheral demyelination Hepatic steatosis Abnormality of movement Decreased LDL cholesterol concentration Malabsorption Rod-cone dystrophy Gait disturbance Muscular hypotonia Scrotal hypoplasia Cafe-au-lait spot Decreased body weight Hypocholesterolemia Abetalipoproteinemia Adducted thumb Joint stiffness Increased intracranial pressure Holoprosencephaly Spastic paraparesis Paraplegia Spastic paraplegia Abnormal pyramidal sign Dilatation Increased HDL cholesterol concentration Intellectual disability, severe Hydrocephalus Macrocephaly Flexion contracture Strabismus Generalized hypotonia Steatocystoma multiplex Ovarian carcinoma



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 Otitis media, related diseases and genetic alterations Edema and Gliosis, related diseases and genetic alterations Low-set ears and Low posterior hairline, related diseases and genetic alterations Ptosis and Hypertonia, related diseases and genetic alterations Cleft palate and Holoprosencephaly, related diseases and genetic alterations Micrognathia and Polymicrogyria, related diseases and genetic alterations

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