Neuroblastoma, and Ectodermal dysplasia

Diseases related with Neuroblastoma and Ectodermal dysplasia

In the following list you will find some of the most common rare diseases related to Neuroblastoma and Ectodermal dysplasia that can help you solving undiagnosed cases.


Top matches:

Low match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME


Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Low match PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM


PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM Is also known as platelet disorder, aspirin-like|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|fpd/aml

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hernia
  • Hypospadias
  • Umbilical hernia


SOURCES: OMIM MENDELIAN

More info about PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM

Low match CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY


Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder (see this term)caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.

CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY Is also known as antiplasmin deficiency|plasmin inhibitor deficiency

Related symptoms:

  • Pain
  • Bruising susceptibility
  • Hematuria
  • Abnormal bleeding
  • Bone pain


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY

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Other less relevant matches:

Low match LEUKEMIA, ACUTE MYELOID; AML


LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Related symptoms:

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKEMIA, ACUTE MYELOID; AML

Low match AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS


Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS Is also known as bullous congenital ichthyosiform erythroderma of brock|epidermolytic ichthyosis|bie|bullous congenital ichthyosiform erythroderma|ehk|bullous erythroderma ichthyosiformis congenita of brocq|bcie|bullous ichthyosiform erythroderma|ichthyosis hystrix brocq

Related symptoms:

  • Growth delay
  • Hyperhidrosis
  • Hyperkeratosis
  • Weight loss
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS

Low match SCHÖPF-SCHULZ-PASSARGE SYNDROME


Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.

SCHÖPF-SCHULZ-PASSARGE SYNDROME Is also known as palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|eccrine tumors with ectodermal dysplasia|ssps|palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypot

Related symptoms:

  • Neoplasm
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Carcinoma


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SCHÖPF-SCHULZ-PASSARGE SYNDROME

Low match PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC


Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma (summary by Zhong et al., 2016).

PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC Is also known as corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly|cided, formerly

Related symptoms:

  • Neoplasm
  • Short neck
  • Long philtrum
  • Hyperkeratosis
  • Carcinoma


SOURCES: OMIM MENDELIAN

More info about PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC

Low match LEUKONYCHIA TOTALIS


Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.

LEUKONYCHIA TOTALIS Is also known as leukonychia totalis and/or partialis|porcelain nails

Related symptoms:

  • Diabetes mellitus
  • Photophobia
  • Carious teeth
  • Palmoplantar keratoderma
  • Ectodermal dysplasia


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKONYCHIA TOTALIS

Low match ONDINE SYNDROME


Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

Low match PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME


Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Dysphagia
  • Edema
  • Hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME

Top 5 symptoms//phenotypes associated to Neuroblastoma and Ectodermal dysplasia

Symptoms // Phenotype % cases
Palmoplantar keratoderma Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Palmoplantar hyperkeratosis Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Neuroblastoma and Ectodermal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Parakeratosis Weight loss Seizures Epidermal acanthosis Bruising susceptibility Pain Squamous cell carcinoma Carcinoma

Rare Symptoms - Less than 30% cases


Abnormality of the mouth Ecchymosis Acute monocytic leukemia Follicular hyperkeratosis Acute myeloid leukemia Confusion Leukemia Myelodysplasia Postural instability Anemia Thrombocytopenia Abnormal bleeding Fever Hernia Gingival bleeding Onycholysis Nail dystrophy Plantar hyperkeratosis Growth delay Strabismus Short nose Poor appetite Papule Facial telangiectasia Thin nail Epiphora Toenail dysplasia Premature loss of primary teeth Ridged nail Abnormal toenail morphology Blepharitis Abnormal eyelash morphology Renal cell carcinoma Concave nail Leukonychia Adenoma sebaceum Ovarian neoplasm Short eyelashes Basal cell carcinoma Psoriasiform dermatitis Abnormality of the fingernails Joint hypermobility Chronic rhinitis Long philtrum Atrophic scars Amyloidosis Short neck Poroma Rhinitis Apocrine hidrocystoma Narrow nail Corneal neovascularization Muscular hypotonia Epidermoid cyst Nephrolithiasis Hyperkeratosis pilaris Finger joint hypermobility Abnormality of primary teeth Epidermal hyperkeratosis Keratoacanthoma Bird-like facies Diabetes mellitus Photophobia Carious teeth Trichodysplasia Type II diabetes mellitus Thick nail Intellectual disability Low-set ears Thickened skin Triangular mouth Snoring Ganglioneuroma Ganglioneuroblastoma Abnormality of the autonomic nervous system Hypercapnia Hepatomegaly Dysphagia Edema Gastroesophageal reflux Nausea and vomiting Ascites Gastrointestinal hemorrhage Poor suck Neoplasm of the central nervous system Oral-pharyngeal dysphagia Hiatus hernia Esophagitis Oral leukoplakia Hypergranulosis Stomach cancer Esophageal stricture Clubbing of toes Abnormality of the mediastinum Diffuse palmoplantar hyperkeratosis Esophageal neoplasm Esophageal carcinoma Abnormality of esophagus physiology Abnormal large intestine morphology Abnormality of temperature regulation Central hypoventilation Cognitive impairment Abnormality of the cardiovascular system Feeding difficulties Downslanted palpebral fissures Respiratory insufficiency Diarrhea Obesity Depressivity Constipation Posteriorly rotated ears Anxiety Low-set, posteriorly rotated ears Apnea Respiratory tract infection Cyanosis Abnormal lung morphology Abnormal pupil morphology Aganglionic megacolon Increased body weight Abnormal autonomic nervous system physiology Sleep apnea Polyphagia Polycythemia Hypoventilation Obstructive sleep apnea Cardiorespiratory arrest Hypothermia Chronic constipation Abnormality of the endocrine system Chronic lung disease Hypoxemia Aplasia/Hypoplasia of the eyebrow Congenital ichthyosiform erythroderma Small nail Panhypopituitarism Anosmia Tented upper lip vermilion Precocious puberty Anophthalmia Narrow nasal bridge Hamartoma Median cleft lip Maternal diabetes Duodenal atresia Abnormality of chromosome segregation Hyposmia Nasal obstruction Hemangioma Single median maxillary incisor Abnormality of the nasopharynx Cyclopia Semilobar holoprosencephaly Hypothalamic hamartoma Torus palatinus Single naris Prominent median palatal raphe Pyriform aperture stenosis Midnasal stenosis Hypospadias Umbilical hernia EMG: myopathic abnormalities Holoprosencephaly Lymphoma Coloboma Short stature Microcephaly Scoliosis Cleft palate Intrauterine growth retardation Anteverted nares Intellectual disability, mild Microphthalmia Agenesis of corpus callosum Severe short stature Hypothyroidism Cleft lip Short philtrum Choanal atresia Cleft upper lip Iris coloboma Asthma Premature birth Growth hormone deficiency Renal agenesis Specific learning disability Tetralogy of Fallot Hypotelorism Ambiguous genitalia Hypoplasia of penis Depressed nasal ridge Neutropenia Epistaxis Hypodontia Scaling skin Myeloid leukemia Night sweats Chronic pain Acute promyelocytic leukemia Erythema Ichthyosis Sepsis Abnormal blistering of the skin Dehydration Cutaneous photosensitivity Skin ulcer Recurrent skin infections Erythroderma Menorrhagia Skin vesicle Fragile skin Heat intolerance Disseminated intravascular coagulation Generalized hyperkeratosis Congenital bullous ichthyosiform erythroderma Hypernatremia Hypernatremic dehydration Conjunctival hamartoma Alopecia Abnormality of the eye Hypotrichosis Petechiae Sarcoma Purpura Abnormal umbilical stump bleeding Prolonged bleeding time Acute lymphoblastic leukemia Acute leukemia Impaired platelet aggregation Refractory anemia Hematuria Bone pain Intracranial hemorrhage Histiocytosis Joint hemorrhage Persistent bleeding after trauma Intramuscular hematoma Hemothorax Leukopenia Reduced euglobulin clot lysis time Fatigue Respiratory distress Headache Recurrent infections Respiratory failure Dyspnea Hepatosplenomegaly Scarring Lymphadenopathy Coma Pancytopenia Esophageal leukoplakia



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