Neuroblastoma, and Hip dysplasia

Diseases related with Neuroblastoma and Hip dysplasia

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


Top matches:

High match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

High match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Medium match 17Q21.31 MICRODELETION SYNDROME


Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

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Other less relevant matches:

Low match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Low match MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

Low match COXOPODOPATELLAR SYNDROME


Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.

COXOPODOPATELLAR SYNDROME Is also known as scott-taor syndrome|sps|small patella syndrome|ischiopatellar dysplasia

Related symptoms:

  • Hip dysplasia
  • Abnormality of epiphysis morphology
  • Abnormality of pelvic girdle bone morphology
  • Abnormality of the knee
  • Aplasia/Hypoplasia of the patella


SOURCES: ORPHANET MENDELIAN

More info about COXOPODOPATELLAR SYNDROME

Low match FAMILIAL CLUBFOOT DUE TO 17Q23.1Q23.2 MICRODUPLICATION


17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.

FAMILIAL CLUBFOOT DUE TO 17Q23.1Q23.2 MICRODUPLICATION Is also known as hereditary clubfoot due to 17q23.1-q23.2 microduplication

Related symptoms:

  • Short stature
  • Abnormality of the skeletal system
  • Talipes equinovarus
  • Genu valgum
  • Hip dysplasia


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL CLUBFOOT DUE TO 17Q23.1Q23.2 MICRODUPLICATION

Low match TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME


Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.

TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME Is also known as tall stature-scoliosis-macrodactyly of the halluces syndrome

Related symptoms:

  • Scoliosis
  • Osteopenia
  • Arachnodactyly
  • Hip dysplasia
  • Tall stature


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-SCOLIOSIS-MACRODACTYLY OF THE GREAT TOES SYNDROME

Low match THREE M SYNDROME 3; 3M3


The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (OMIM ).

THREE M SYNDROME 3; 3M3 Is also known as 3m syndrome 3

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Abnormality of the skeletal system
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about THREE M SYNDROME 3; 3M3

Low match HIP DYSPLASIA, BEUKES TYPE


Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.

HIP DYSPLASIA, BEUKES TYPE Is also known as cilliers-beighton syndrome|hip dysplasia, beukes type|osteoarthropathy, premature degenerative, of hip|bfhd|premature degenerative osteoarthropathy of the hip|beukes familial hip dysplasia

Related symptoms:

  • Scoliosis
  • Pain
  • Kyphosis
  • Severe short stature
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HIP DYSPLASIA, BEUKES TYPE

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Long philtrum Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Anteverted nares Seizures Decreased body weight Pointed chin Frontal bossing Ventricular septal defect Ventriculomegaly Pyloric stenosis Hydrocephalus Atrial septal defect Feeding difficulties in infancy Failure to thrive in infancy Kyphosis Hypermetropia Abnormality of cardiovascular system morphology Absent speech Abnormality of the testis Hypertension Epicanthus Joint hypermobility Hypogonadism Cryptorchidism Global developmental delay Generalized hypotonia Small for gestational age Growth delay Micrognathia Delayed speech and language development Laryngomalacia Strabismus Low-set ears High palate Cognitive impairment

Rare Symptoms - Less than 30% cases


Bicuspid aortic valve Slender finger Expressive language delay Pain Congestive heart failure Redundant neck skin Fragile nails Arnold-Chiari type I malformation Cleft upper lip Telangiectasia of the skin Slender long bone Osteoarthritis Wide anterior fontanel Oral cleft Hepatic steatosis Narrow palpebral fissure Irregular vertebral endplates Infantile muscular hypotonia Abnormality of the skin Sacral dimple Arthropathy Heterotopia Severe short stature Vertebral fusion Pulmonic stenosis Progeroid facial appearance Lack of skin elasticity Rocker bottom foot Hypoplastic toenails Hyperglycemia Aortic aneurysm Broad femoral neck Narrow palate Abnormality of the hair Mitral valve prolapse Eczema Overgrowth High, narrow palate Delayed puberty Intellectual disability, moderate Long fingers Protruding ear Ptosis Motor delay Arachnodactyly Talipes equinovarus Short neck Abnormality of the dentition Pectus excavatum Joint laxity Abnormal heart morphology Pes planus Osteoporosis Hyperkeratosis Kyphoscoliosis Osteopenia Poor speech Finger clinodactyly Conductive hearing impairment Low-set, posteriorly rotated ears Myopathy Coxa valga Clinodactyly Abnormal facial shape Muscular hypotonia Depressed nasal bridge Hypospadias Feeding difficulties Myopia Upslanted palpebral fissure Midface retrusion Cerebral atrophy Cleft palate Malar flattening Cataract Hydronephrosis Hypoplasia of the corpus callosum Cardiomyopathy Cerebral cortical atrophy Dysphagia Delayed skeletal maturation Microcephaly Hypothyroidism Abnormal cardiac septum morphology Nystagmus Blepharophimosis Pes cavus Downslanted palpebral fissures Posteriorly rotated ears Gastroesophageal reflux Hearing impairment Joint stiffness Hypertelorism Abnormality of epiphysis morphology Abnormal bone ossification Depressivity Enlarged cerebellum Myofiber disarray Shallow acetabular fossae Vitreomacular adhesion Vomiting Tendon rupture Intrauterine growth retardation Alveolar rhabdomyosarcoma Lymphangiectasis Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Heberden's node Avascular necrosis of the capital femoral epiphysis Hyperactivity Coxa vara Otitis media Underdeveloped nasal alae Vesicoureteral reflux Everted lower lip vermilion Small hand Bulbous nose Long face Dry skin Arthralgia Falls Abnormality of the foot High forehead Hip dislocation Broad forehead Spondyloepiphyseal dysplasia Prominent nasal bridge Scarring Pallor Cleft lip Anxiety Flat capital femoral epiphysis Macrotia Macrocephaly at birth Deep-set nails Loose anagen hair Fasting hypoglycemia Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Schwannoma Rhabdomyosarcoma Hyperextensibility of the finger joints Pneumothorax Abnormality of the epiphysis of the femoral head Concave nail Hypoplasia of teeth Abnormal ossification involving the femoral head and neck Broad philtrum Large face Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Central apnea Verrucae Large forehead Achilles tendon contracture Thick upper lip vermilion Large earlobe Woolly hair Barrel-shaped chest Papilloma Thin nail Cardiomyocyte hypertrophy Concentric hypertrophic cardiomyopathy Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Abnormality of bone mineral density Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Wide intermamillary distance Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Arthralgia of the hip Transitional cell carcinoma of the bladder Hypopnea Deep plantar creases Shyness Irregular capital femoral epiphysis Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Melena Hematemesis Focal-onset seizure Abnormality of the urinary system Hypotelorism Abnormality of the cerebral vasculature Generalized lipodystrophy Abnormal hair quantity Abnormality of the pulmonary artery White forelock Broad hallux Exercise-induced myalgia Chondrocalcinosis Long hallux Prominent superficial veins Pili torti Peripheral arterial stenosis Macrodactyly Osteosarcoma Aortic valve calcification Renal neoplasm Osteolytic defects of the phalanges of the hand Meningioma Neoplasm of the lung Insulin-resistant diabetes mellitus Prematurely aged appearance Secondary amenorrhea Ovarian neoplasm Sparse body hair Glycosuria Aplasia/Hypoplasia of the skin Lipoatrophy Decreased fertility Neoplasm of the breast Tall stature Proximal femoral epiphysiolysis Pneumonia Abnormality of pelvic girdle bone morphology Knee osteoarthritis Abnormality of the knee Morphological abnormality of the central nervous system Hip pain Hip osteoarthritis Beaking of vertebral bodies Exostoses Aplasia/Hypoplasia of the patella Genu valgum Pathologic fracture Small nail Platyspondyly Abnormality of circulating leptin level Acetabular dysplasia Sclerosis of hand bone Patchy hypo- and hyperpigmentation Progressive clavicular acroosteolysis Neoplasm of the oral cavity Premature arteriosclerosis Intervertebral disc degeneration Neoplasm of the thyroid gland Subcutaneous calcification Mild short stature Neoplasm of the small intestine Abnormality of the Achilles tendon Abnormal hair whorl Fasting hyperinsulinemia Aplasia/Hypoplasia of the eyebrow Hyperlordosis Status epilepticus Prominent metopic ridge Broad chin Conspicuously happy disposition Pear-shaped nose Narrow palm Multifocal epileptiform discharges Prominent fingertip pads Chronic infection Anteverted ears Abnormality of the head Abnormality of hair texture Glioma Spondylolisthesis Increased vertebral height Abnormality of the sternum Abnormality of hair pigmentation Skeletal dysplasia Cortical dysplasia Impulsivity Overfolded helix Sparse eyebrow Elbow dislocation Nasal speech Schmorl's node Abnormality of the genitourinary system Widely spaced teeth Joint dislocation Abnormality of the genital system Open mouth Positional foot deformity Hypotrophy of the small hand muscles Coronary artery atherosclerosis Abnormality of retinal pigmentation Premature graying of hair Calf muscle hypertrophy Abnormality of the thorax Premature ovarian insufficiency Abnormality of the voice Hyperinsulinemia Reduced bone mineral density Neoplasm of the skin Dolichocephaly Increased bone mineral density Narrow face Aortic valve stenosis Skin ulcer Thin skin Skeletal muscle atrophy Hypertriglyceridemia Type II diabetes mellitus Convex nasal ridge Limitation of joint mobility Short palm Triangular face Thin vermilion border Retinal degeneration Congenital cataract Short thorax Hypotrichosis Diabetes mellitus Alopecia Megalencephaly Full cheeks Thickened nuchal skin fold Metatarsus adductus Congenital hypothyroidism Anteriorly placed anus Absent septum pellucidum Abnormality of the immune system Abnormal heart valve morphology Infantile spasms High hypermetropia Macule Polyphagia Hypermelanotic macule Dysphasia Delayed cranial suture closure Hemiplegia/hemiparesis Aortic root aneurysm Congenital sensorineural hearing impairment Clitoral hypertrophy Self-injurious behavior Hand polydactyly Patent foramen ovale Abnormality of vision Delayed gross motor development Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Abnormal intestine morphology Submucous cleft hard palate Spinal canal stenosis Generalized hirsutism 11 pairs of ribs Biliary tract abnormality Abnormal left ventricle morphology Abnormal renal physiology Colpocephaly Thickened helices Rib fusion Delayed closure of the anterior fontanelle Abnormality of the spleen Left ventricular noncompaction Volvulus Delayed CNS myelination Dilation of lateral ventricles Abnormality of the neck Foot polydactyly Lower limb asymmetry Optic nerve coloboma Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Self-mutilation Overweight Epileptic spasms Abnormal lung lobation Spastic tetraparesis Short phalanx of finger Cavum septum pellucidum Brachycephaly Abnormality of the pinna Abnormality of the eye Camptodactyly Abnormality of the kidney Aggressive behavior Neonatal hypotonia Deeply set eye EEG abnormality Mandibular prognathia Autism Narrow mouth Micropenis Prominent forehead Coloboma Agenesis of corpus callosum Constipation Clinodactyly of the 5th finger Patent ductus arteriosus Obesity Behavioral abnormality Gait disturbance Optic atrophy Wide nasal bridge Brachydactyly Visual impairment Muscle weakness Sensorineural hearing impairment Abnormality of the liver Camptodactyly of finger Stereotypy Hypoplasia of penis Telangiectasia Large fontanelles Pachygyria Mitral regurgitation Hypertrichosis Depressed nasal ridge Tetraparesis Ventricular hypertrophy Interphalangeal joint contracture of finger Hypsarrhythmia Abnormality of the ribs Coarctation of aorta Optic disc pallor Tetralogy of Fallot Microtia Abnormal blistering of the skin Epileptic encephalopathy Intestinal malrotation Delayed myelination Brain atrophy Bifid uvula Renal cyst Short foot Polymicrogyria Synophrys Abnormality of the cerebral white matter Dilated cardiomyopathy Neurological speech impairment Abnormality of chromosome stability Periventricular leukomalacia Microscopic hematuria Webbed neck Hoarse voice Cafe-au-lait spot Hydrops fetalis Lymphedema Hyperpigmentation of the skin Long eyelashes Hypoplasia of dental enamel Atrial fibrillation Thick lower lip vermilion Epidermal acanthosis Apraxia Growth hormone deficiency Premature birth Short chin Nevus Sepsis Macroglossia Tetraplegia Ascites Postural instability Sleep disturbance Hematuria Thick vermilion border Wide nose Tachycardia Astigmatism Joint hyperflexibility Abnormality of dental enamel Abnormality of the fingernails Pectus carinatum Reduced subcutaneous adipose tissue Severe postnatal growth retardation Obstructive sleep apnea Soft skin Neonatal hypoglycemia Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Curly hair Keratoconus Neurodevelopmental delay Acanthosis nigricans Large for gestational age Tricuspid regurgitation Bilateral cryptorchidism Heart murmur Pleural effusion Redundant skin Hyperextensible skin Poor suck Relative macrocephaly Arnold-Chiari malformation Hemangioma Abnormal dermatoglyphics Cutis laxa Arthrogryposis multiplex congenita Sparse hair Abnormal corpus callosum morphology Talipes valgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Hypoplastic female external genitalia Abnormality of the hairline Oppositional defiant disorder Asymmetry of the ears Noncompaction cardiomyopathy Cranial nerve VI palsy Abnormal social behavior Abnormal external genitalia Aplasia/Hypoplasia involving bones of the feet Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Annular pancreas Aortic arch aneurysm Abnormality of brain morphology Abnormality of the optic disc Abnormality of the anus Gastric ulcer Abnormality of the mandible Abnormality of female external genitalia Lambdoidal craniosynostosis Impaired social interactions Congenital talipes calcaneovalgus Hyperplastic labia majora Wide mouth Arrhythmia Postnatal growth retardation Irritability Apnea Hypertrophic cardiomyopathy Abnormality of the nervous system Carcinoma Hypoglycemia Coarse facial features Polyhydramnios Proptosis Respiratory failure Hyperhidrosis Inguinal hernia Hernia Abnormal parietal bone morphology Renal insufficiency Short nose Intellectual disability, mild Edema Respiratory insufficiency Macrocephaly Dysarthria Hepatomegaly Neoplasm Agenesis of the anterior commissure Solitary renal cyst Abnormality of the renal pelvis Abnormality of the cerebral ventricles Wide proximal femoral metaphysis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Ambiguous genitalia, related diseases and genetic alterations Congestive heart failure and Renal hypoplasia, related diseases and genetic alterations Hydrocephalus and Dysmetria, related diseases and genetic alterations Hydrocephalus and Focal seizures, related diseases and genetic alterations Ptosis and Abnormal cerebellum morphology, related diseases and genetic alterations Short stature and Poor speech, related diseases and genetic alterations Intellectual disability and Atrial fibrillation, related diseases and genetic alterations

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