Cleft palate, and Neuroblastoma

Diseases related with Cleft palate and Neuroblastoma

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

Top matches:

Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Other less relevant matches:

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL 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

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Top 5 symptoms//phenotypes associated to Cleft palate and Neuroblastoma

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Cleft palate and Neuroblastoma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Neoplasm

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Upslanted palpebral fissure Hydrocephalus Microcephaly Hypothyroidism Abnormal facial shape Umbilical hernia Hypospadias Seizures Hypoglycemia Scoliosis Diastasis recti Short stature Enlarged kidney Hypertelorism Micrognathia Proptosis Large for gestational age Obesity Macrocephaly Omphalocele Overgrowth Macroglossia Renal cyst Coarse facial features Hydronephrosis Inguinal hernia Abnormality of cardiovascular system morphology Hepatomegaly Midface retrusion Abnormal heart morphology Mandibular prognathia Leukemia Strabismus Low-set, posteriorly rotated ears Rhabdomyosarcoma Attention deficit hyperactivity disorder Cleft upper lip Lymphoma Hyperactivity Recurrent urinary tract infections Growth delay Anteverted nares Abnormality of the skeletal system Pain Hepatoblastoma Cataract Malar flattening Long philtrum Dandy-Walker malformation Conductive hearing impairment Atrial septal defect Cardiomyopathy Hypertension Posterior helix pit Polyhydramnios Hernia Wide mouth Polydactyly Nevus flammeus Neonatal hypoglycemia Nephroblastoma Accelerated skeletal maturation Abnormality of the face Hemihypertrophy Visceromegaly Abnormality of the kidney Large fontanelles Embryonal neoplasm Apnea Patent ductus arteriosus High palate Wide nasal bridge Short neck Ventricular septal defect Delayed speech and language development Hypoplasia of the corpus callosum Splenomegaly Neurological speech impairment Low-set ears Epicanthus

Rare Symptoms - Less than 30% cases

Abnormality of chromosome stability Muscular hypotonia Prominent occiput Downslanted palpebral fissures Gonadoblastoma Tetraparesis Hypercalciuria Cleft lip Clinodactyly of the 5th finger Agenesis of corpus callosum Bifid uvula Camptodactyly of finger Paraparesis Delayed myelination Telangiectasia Nephroblastomatosis Oral cleft Short foot Otitis media Prominent nose Relative macrocephaly Blindness Penoscrotal hypospadias Short nose Poor speech Autism Vesicoureteral reflux Congenital diaphragmatic hernia Cardiomegaly Spinal canal stenosis Adrenocortical carcinoma Adrenocortical cytomegaly Nephrolithiasis Tall stature Leiomyosarcoma Wide anterior fontanel Postaxial polydactyly Nystagmus Tibial bowing Broad palm Congenital hypothyroidism Postural instability Foot polydactyly Carcinoma Weight loss Infantile muscular hypotonia Sleep apnea Feeding difficulties in infancy Visual impairment Anemia Ureteral duplication Prominent metopic ridge Intestinal malrotation Small for gestational age Gastroesophageal reflux Narrow palpebral fissure Motor delay Edema Nevus Intellectual disability, mild Ataxia Abnormal lung lobation Absent speech Pectus excavatum Posteriorly rotated ears Scrotal hypoplasia Brachycephaly Narrow mouth Short toe Feeding difficulties Abnormality of the pinna Blepharophimosis Lower limb asymmetry Brachydactyly Abnormality of the musculature Microtia Intrauterine growth retardation Muscle weakness Abnormality of the skin Hypoplasia of penis Premature birth Intellectual disability, moderate Abnormality of the nervous system Abnormality of the outer ear Ventriculomegaly Respiratory failure Supernumerary nipple Respiratory insufficiency Hypertrichosis Abnormality of the ribs Abdominal wall defect Clumsiness Prune belly Anterior creases of earlobe Generalized hirsutism Frontal bossing Abnormality of earlobe Hamartoma Gait disturbance Dysphagia Delayed cranial suture closure Polyphagia Optic atrophy Macule Metatarsus adductus High hypermetropia Dysphasia Hypermelanotic macule Infantile spasms Cognitive impairment Myopia Overweight Self-mutilation Birth length greater than 97th percentile Penoscrotal transposition Duplication of renal pelvis Six lumbar vertebrae Submucous cleft lip Cleft lower lip Cyst of the ductus choledochus Two carpal ossification centers present at birth Arnold-Chiari type I malformation Failure to thrive Abnormal heart valve morphology Epileptic spasms Sensorineural hearing impairment Congenital sensorineural hearing impairment Aortic root aneurysm Submucous cleft hard palate Anteriorly placed anus Slender long bone Telangiectasia of the skin Absent septum pellucidum Abnormality of the immune system Hemiplegia/hemiparesis Abnormality of vision Clitoral hypertrophy Abnormal blistering of the skin Mitral regurgitation Depressed nasal ridge EEG abnormality Deeply set eye Neonatal hypotonia Ventricular hypertrophy Interphalangeal joint contracture of finger Hypsarrhythmia Coarctation of aorta Aggressive behavior Optic disc pallor Tetralogy of Fallot Epileptic encephalopathy Heterotopia Hip dysplasia Camptodactyly Abnormality of the eye Brain atrophy Hepatic steatosis Polymicrogyria Synophrys Hypermetropia Abnormality of the cerebral white matter Joint stiffness Abnormality of the liver Dilated cardiomyopathy Coloboma Pachygyria Decreased body weight Self-injurious behavior Delayed skeletal maturation Hand polydactyly Failure to thrive in infancy Myopathy Patent foramen ovale Pyloric stenosis Behavioral abnormality Abnormal cardiac septum morphology Kyphosis Cerebral atrophy Delayed gross motor development Sacral dimple Clinodactyly Aplasia/Hypoplasia of the corpus callosum Constipation Micropenis Pes cavus Prominent forehead Bicuspid aortic valve Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Hypogonadism Abnormal intestine morphology Spastic tetraparesis Pointed chin Short phalanx of finger Stereotypy Cerebral cortical atrophy Hiatus hernia Noncompaction cardiomyopathy Abnormal eyebrow morphology Spinal cord compression Limited elbow extension Myeloid leukemia Disproportionate short stature Hip contracture Abnormality of the elbow Obstructive sleep apnea Megalencephaly Short femoral neck Osteopetrosis Generalized joint laxity Communicating hydrocephalus Upper airway obstruction Dysuria Central apnea Bowel incontinence Flared metaphysis Cor pulmonale Acanthosis nigricans Recurrent otitis media Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormal lung morphology Rhizomelia Clonus Short long bone Spondyloepiphyseal dysplasia Disproportionate short-limb short stature Tinnitus Abnormality of pelvic girdle bone morphology Genu varum Back pain Epiphyseal dysplasia Chronic otitis media Abnormality of femur morphology Multiple epiphyseal dysplasia Epidermal acanthosis Open mouth Spasticity Thin upper lip vermilion Protruding ear Generalized tonic-clonic seizures Inability to walk Apraxia Postnatal microcephaly Myelitis Bradycardia Hyperbilirubinemia Laryngomalacia Impulsivity Inverted nipples Pontocerebellar atrophy Lumbar kyphosis in infancy Spinal stenosis with reduced interpedicular distance Hypoxemia Cervical myelopathy Myelopathy Recurrent ear infections Thoracolumbar kyphosis Chronic myelogenous leukemia Neonatal short-limb short stature Central sleep apnea Obstructive lung disease Trident hand Hypopnea Cervical cord compression Iritis Small foramen magnum Childhood onset short-limb short stature Brain stem compression Limited hip extension Osteoarthritis Lumbar hyperlordosis Coronal craniosynostosis Lambdoidal craniosynostosis Abnormal left ventricle morphology Biliary tract abnormality Cavum septum pellucidum Periventricular leukomalacia Abnormal corpus callosum morphology Impaired social interactions Abnormality of female external genitalia Colpocephaly Abnormality of the mandible Gastric ulcer Abnormality of the anus Abnormality of the optic disc Expressive language delay Abnormality of brain morphology Abnormal renal physiology Thickened helices Annular pancreas 11 pairs of ribs Ocular albinism Short 5th finger Missing ribs Abnormality of the gastrointestinal tract Optic nerve coloboma Abnormality of the neck Abnormality of the testis Rib fusion Dilation of lateral ventricles Delayed CNS myelination Volvulus Redundant neck skin Left ventricular noncompaction Abnormality of the spleen Delayed closure of the anterior fontanelle Aortic arch aneurysm Muscle flaccidity Sleep disturbance Severe short stature Abnormality of the cerebral ventricles Abnormality of the renal pelvis Solitary renal cyst Agenesis of the anterior commissure Flexion contracture Hyperreflexia Skeletal dysplasia Hyperplastic labia majora Arthralgia Rigidity Hyperlordosis Scarring Joint hyperflexibility Micromelia Confusion Abnormal parietal bone morphology Aplasia/Hypoplasia involving bones of the feet Hypoplastic labia minora Asymmetry of the ears Horizontal eyebrow Abnormal external genitalia Talipes valgus Abnormal social behavior Cranial nerve VI palsy Narrow sacroiliac notch Oppositional defiant disorder Congenital talipes calcaneovalgus Abnormality of the hairline Hypoplastic female external genitalia Bifid ribs Ebstein anomaly of the tricuspid valve Abnormality of the femoral neck Widened subarachnoid space Bilobate gallbladder Broad secondary alveolar ridge Vitreomacular adhesion 2-3 finger syndactyly B-cell lymphoma Mastoiditis Malar prominence Dysgammaglobulinemia Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Glioma Medulloblastoma Recurrent sinopulmonary infections Recurrent bronchitis Vomiting Abnormal eyelid morphology Acute leukemia Hearing abnormality Acute lymphoblastic leukemia Anal stenosis Autoimmune hemolytic anemia Freckling Long nose Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Cachexia Progressive vitiligo Headache Low anterior hairline Astrocytoma Vitritis Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Soft tissue sarcoma Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Acute monocytic leukemia Visual loss Anemia of inadequate production Osteosarcoma Chromosome breakage Uveitis Acute myeloid leukemia Cellulitis Neurofibromas Myelodysplasia Sarcoma Increased intracranial pressure Anorexia Abnormality of skin pigmentation Skin rash Glaucoma Recurrent pneumonia Lymphopenia Liposarcoma Microcornea Cerebellar vermis atrophy Long fingers Overlapping toe Tricuspid regurgitation Overfolded helix Optic nerve hypoplasia Cutis laxa Thickened skin Hypoplasia of dental enamel Short palpebral fissure Febrile seizures Wide intermamillary distance Full cheeks Flat face Irregular hyperpigmentation Severe global developmental delay Retinopathy Telecanthus High forehead Microphthalmia Congestive heart failure Postauricular pit Auricular pit Tethered cord Skin tags Abnormality of the vasculature Central hypotonia Syringomyelia Psoriasiform dermatitis Hypoplastic nipples External ear malformation Abnormality of the hair Prominent nasal bridge Sinusitis Cafe-au-lait spot Bronchiectasis Chronic diarrhea Choanal atresia Primary amenorrhea Cutaneous photosensitivity Sloping forehead Amenorrhea Convex nasal ridge Neurodegeneration Hemolytic anemia Anal atresia Mental deterioration Periorbital fullness Retrognathia Macrotia Recurrent respiratory infections Pneumonia Thrombocytopenia Immunodeficiency Diarrhea Skeletal muscle atrophy Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Histiocytoma Sebaceous gland carcinoma Short sacroiliac notch High, narrow palate Preauricular skin tag Cerebral visual impairment Renal dysplasia Broad thumb Abnormality of the genital system Cerebellar vermis hypoplasia Small nail Postaxial hand polydactyly Nail dysplasia Webbed neck Dental malocclusion Broad nasal tip Retinal detachment Thick vermilion border Cardiac arrest Wide nose Short distal phalanx of finger Short palm Thin vermilion border Facial asymmetry Pulmonic stenosis Toe syndactyly Congenital cataract Finger syndactyly Irritability Arrhythmia Syndactyly Abnormality of the dentition Intellectual disability, severe Hoarse voice Congenital hip dislocation Congenital mesoblastic nephroma Duodenal atresia Short 2nd finger Broad toe Meckel diverticulum Cervical ribs Pancreatic islet-cell hyperplasia Chordee Increased IgE level Ankyloglossia Aplasia/Hypoplasia of the abdominal wall musculature Flared iliac wings Abnormality of the helix Furrowed tongue Renal neoplasm Polysplenia Multicystic kidney dysplasia Low hanging columella Broad foot Transposition of the great arteries Abnormality of digit Vertebral fusion Vertebral segmentation defect Prolonged QT interval Bundle branch block Hydroureter Bilateral talipes equinovarus Preauricular pit Cupped ear Abnormality of the voice Abnormality of the hand Talipes equinovarus Pancreatoblastoma Neoplasm of the eye Polycythemia Congenital megaureter Large placenta Branchial cyst Infra-orbital crease Facial hemangioma Urogenital fistula Elevated alpha-fetoprotein Choroideremia Asymmetric growth Pseudohypoparathyroidism Otosclerosis Multiple renal cysts Exocrine pancreatic insufficiency Neurodevelopmental delay Abnormality of the shape of the midface Melanocytic nevus Redundant skin Arnold-Chiari malformation Nephropathy Long face Hypertrophic cardiomyopathy Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Abnormality of pancreas morphology Large intestinal polyposis Fibrous hamartoma Hypoplasia of the thymus Pancreatic hyperplasia Overgrowth of external genitalia Thymus hyperplasia Abdominal mass Opsoclonus Ganglioneuroma Flank pain Renal cortical cysts Teratoma Diaphragmatic eventration Unilateral cryptorchidism Abnormality of the tongue Pancreatic cysts Nonimmune hydrops fetalis Subchorionic septal cyst Ketosis Protuberant abdomen Aniridia Abnormality of the ear Large hands Prominent supraorbital ridges Polycystic kidney dysplasia Growth abnormality Nephrocalcinosis Abdominal distention Pulmonary hypoplasia Joint hypermobility Myoclonus Respiratory distress Ganglioneuroblastoma


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