Low-set ears, and Neuroblastoma

Diseases related with Low-set ears and Neuroblastoma

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

Top matches:

High 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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

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

Other less relevant matches:

Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

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

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Medium 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

Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.

CHOROID PLEXUS CARCINOMA Is also known as sgs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOROID PLEXUS CARCINOMA

Top 5 symptoms//phenotypes associated to Low-set ears and Neuroblastoma

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

Other less frequent symptoms

Patients with Low-set ears and Neuroblastoma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Low-set, posteriorly rotated ears

Common Symptoms - More than 50% cases

Abnormality of cardiovascular system morphology

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases

Short neck

Common Symptoms - More than 50% cases

Hypospadias

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

High palate

Common Symptoms - More than 50% cases

Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases

Posteriorly rotated ears

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Pectus excavatum

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Cognitive impairment Microcephaly Pulmonic stenosis Growth delay Ventricular septal defect Wide nasal bridge Anteverted nares Neoplasm Strabismus Hypoplasia of the corpus callosum Delayed skeletal maturation Hydrocephalus Upslanted palpebral fissure Hypothyroidism Ptosis Delayed speech and language development Failure to thrive Intellectual disability, mild Long philtrum Arrhythmia Hernia Gastroesophageal reflux Cardiomyopathy Webbed neck Cataract Patent ductus arteriosus Constipation Proptosis Polyhydramnios Abnormality of the skeletal system Short nose Postnatal growth retardation Hypertrichosis Cleft palate Syndactyly Clinodactyly of the 5th finger Hydronephrosis Scrotal hypoplasia Abnormality of the dentition Coarse facial features Hypoplasia of dental enamel Nevus Talipes equinovarus Abnormality of the skin Edema Hypertension Macroglossia Arnold-Chiari type I malformation Sensorineural hearing impairment Abnormality of the pinna Failure to thrive in infancy Narrow mouth Inguinal hernia Redundant neck skin Brachycephaly Hypoglycemia Agenesis of corpus callosum Cerebral atrophy Hypogonadism Obstructive sleep apnea Wide anterior fontanel Myopia Cafe-au-lait spot Apnea Feeding difficulties in infancy Dilatation Abnormality of the genital system Nystagmus Obesity High, narrow palate Dental malocclusion Thick vermilion border Ganglioneuroblastoma Coarctation of aorta Frontal bossing Laryngomalacia Bicuspid aortic valve Mandibular prognathia Clumsiness Hypertrophic cardiomyopathy Abnormality of the kidney Dysphagia Tricuspid regurgitation Ventriculomegaly Absent speech

Rare Symptoms - Less than 30% cases

Shield chest Splenomegaly Abnormal pulmonary valve morphology Brachydactyly Intellectual disability, severe Abnormal mitral valve morphology Multiple lentigines Macrocephaly Poor suck Clinodactyly Hepatomegaly Loose anagen hair Schwannoma Kyphoscoliosis Neurofibromas Patent foramen ovale Abnormal cardiac septum morphology Leukemia Facial asymmetry Ventricular hypertrophy Low posterior hairline Lymphedema Sparse hair Hoarse voice Polydactyly Hip dysplasia Cerebral cortical atrophy Micropenis Autism EEG abnormality Deeply set eye Single transverse palmar crease Camptodactyly Coloboma Joint hypermobility Hypermetropia Intellectual disability, moderate Joint laxity Hepatic steatosis Hypsarrhythmia Pes cavus Mitral regurgitation Decreased body weight Telangiectasia Stereotypy Pointed chin Infantile muscular hypotonia Pyloric stenosis Delayed cranial suture closure Hypoplastic labia minora Infantile spasms Overweight Self-mutilation Abnormality of the testis Prominent forehead Midface retrusion Irritability Abnormality of the ribs Wide mouth Camptodactyly of finger Neurological speech impairment Cleft upper lip Short distal phalanx of finger Wide nose Short foot Renal cyst Bifid uvula Intestinal malrotation Overgrowth Postaxial hand polydactyly Hypoplasia of penis Broad thumb Malar flattening Narrow palpebral fissure Relative macrocephaly Large for gestational age Hydroureter Abnormal lung lobation Low hanging columella Rhabdomyosarcoma Flared iliac wings Hepatoblastoma Embryonal neoplasm Narrow palate Long eyelashes Myopathy Behavioral abnormality Aplasia/Hypoplasia of the abdominal wall musculature Arnold-Chiari malformation Pectus carinatum Delayed puberty Left ventricular hypertrophy Apraxia Mitral valve prolapse Dandy-Walker malformation Tetralogy of Fallot Aganglionic megacolon Spasticity Hyperhidrosis Triangular face High forehead Joint hyperflexibility Lower limb asymmetry Congestive heart failure Thin upper lip vermilion Wide intermamillary distance Neonatal hypotonia Delayed myelination Umbilical hernia Hyperkeratosis Blepharophimosis Postural instability Respiratory tract infection Full cheeks Microtia Hyperextensible skin Spina bifida occulta Myelodysplasia Triangular mouth Pain Impulsivity Hypoplastic nipples Curly hair Polyphagia Fever Abnormality of the face Cutis laxa Bundle branch block Respiratory insufficiency Generalized hirsutism Motor delay Abnormality of the voice Bilateral cryptorchidism Tibial bowing Alacrima Highly arched eyebrow Vocal cord paralysis Otitis media Arachnoid cyst Long clavicles Diabetes insipidus Opisthotonus Bicornuate uterus Recurrent fractures Short sternum Short 1st metacarpal Broad ribs Shallow orbits Hypoplasia of the maxilla Hypoplastic labia majora Choanal stenosis Prominent nose Concave nail Convex nasal ridge Meningioma Tethered cord Phonophobia Broad distal phalanx of finger Neurodegeneration Sensory impairment Nasolacrimal duct obstruction Abnormal cornea morphology Medulloblastoma Pheochromocytoma Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Dyslexia Sloping forehead Progressive neurologic deterioration Short attention span Radioulnar synostosis Hypoplastic iliac wing Capillary hemangioma Patellar dislocation Poor coordination Shawl scrotum Dislocated radial head Congenital glaucoma Truncal obesity Broad hallux Recurrent upper respiratory tract infections Low anterior hairline Exotropia Dental crowding Wormian bones Wide cranial sutures Glaucoma Iris coloboma Horizontal eyebrow Abnormality of brain morphology Aortic arch aneurysm Annular pancreas Muscle flaccidity Increased density of long bones Aplasia/Hypoplasia of the pubic bone Abnormal external genitalia Abnormality of the optic disc Talipes valgus Abnormal social behavior Cranial nerve VI palsy Noncompaction cardiomyopathy Asymmetry of the ears Oppositional defiant disorder Expressive language delay Abnormality of the anus Metopic suture patent to nasal root Biliary tract abnormality Delayed closure of the anterior fontanelle Rib fusion Thickened helices Colpocephaly Abnormal renal physiology Abnormal left ventricle morphology Abnormality of chromosome stability Gastric ulcer Cavum septum pellucidum Periventricular leukomalacia Abnormal corpus callosum morphology Impaired social interactions Lambdoidal craniosynostosis Abnormality of female external genitalia Abnormality of the mandible Abnormality of the hairline Hypoplastic female external genitalia Hirsutism Pes planus Respiratory distress Immunodeficiency Hyperactivity Ureteral stenosis Abnormality of the cervical spine Retrognathia Widely patent fontanelles and sutures Hyperreflexia Hyperconvex nail Abnormality of the nasopharynx Unsteady gait Teratoma Thick eyebrow Sclerosis of skull base Thickened cortex of long bones Flexion contracture Bifid ribs Hyperplastic labia majora Ebstein anomaly of the tricuspid valve Abnormality of the femoral neck Widened subarachnoid space Bilobate gallbladder Congenital talipes calcaneovalgus Aplasia/Hypoplasia involving bones of the feet Primitive neuroectodermal tumor Agenesis of the anterior commissure Abnormal parietal bone morphology Hypoplasia of first ribs Sacrococcygeal teratoma Abnormality of the cerebral ventricles Abnormality of the renal pelvis Solitary renal cyst Facial hemangioma Facial grimacing Bifid uterus Confusion Keratoconus Severe postnatal growth retardation Soft skin Left ventricular noncompaction Ulnar deviation of the wrist Neonatal hypoglycemia Syringomyelia Body odor Postprandial hyperglycemia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Shyness Reduced subcutaneous adipose tissue Thickened nuchal skin fold Redundant skin Short chin Abnormality of the fingernails Acanthosis nigricans Abnormal dermatoglyphics Concentric hypertrophic cardiomyopathy Hemangioma Aortic aneurysm Neurodevelopmental delay Pleural effusion Heart murmur Hyperglycemia Hypopnea Hypoplastic toenails Rocker bottom foot Microscopic hematuria Fragile nails Abnormality of the hair Large face Hyperextensibility of the finger joints Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Asymmetric septal hypertrophy Broad femoral neck Deep palmar crease Abnormality of earlobe Labial hypoplasia Lack of skin elasticity Limited elbow movement Fetal distress Bronchomalacia Papilloma Thin nail Megalencephaly Capillary malformation Barrel-shaped chest Duodenal ulcer Progeroid facial appearance Woolly hair Large earlobe Bladder neoplasm Melena Central apnea Hematemesis Thick upper lip vermilion Achilles tendon contracture Deep plantar creases Large forehead Verrucae Abnormality of dental enamel Hydrops fetalis Parietal foramina Premature thelarche Congenital neuroblastoma Thickened Achilles tendon Severe short stature Renal insufficiency Dysarthria Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Systolic heart murmur Talon cusp Deviated nasal septum Narrow maxilla Lymphangiectasis Chorioretinal dystrophy Short upper lip Bimanual synkinesia Frontal upsweep of hair Prominent fingertip pads Duane anomaly Keloids Dyscalculia Large foramen magnum Paralysis Duplication of phalanx of hallux Increased corneal curvature Vascular ring Pneumothorax Agoraphobia Osteoporosis Respiratory failure Hyperpigmentation of the skin Sepsis Ascites Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Tetraplegia Premature birth Neonatal sepsis Growth hormone deficiency Eczema Epidermal acanthosis Transitional cell carcinoma of the bladder Thick lower lip vermilion Atrial fibrillation Multifocal atrial tachycardia Choroid plexus papilloma Alveolar rhabdomyosarcoma Astigmatism Tendon rupture Osteopenia Carcinoma Vitreomacular adhesion Abnormality of the nervous system Arthrogryposis multiplex congenita Tachycardia Bladder carcinoma Hematuria Myofiber disarray Enlarged cerebellum Sleep disturbance Macrocephaly at birth Cardiomyocyte hypertrophy Abnormality of the spleen Narrow sacroiliac notch Volvulus Abnormal endocardium morphology Primary amenorrhea Amenorrhea Abnormal bleeding Abdominal distention Bruising susceptibility Hypotrichosis Broad forehead Abdominal pain Rod-cone dystrophy Thrombocytopenia Headache Vomiting Numerous nevi Hypoplasia of the ovary Excessive wrinkled skin Plagiocephaly Abnormality of the pulmonary artery Abnormal localization of kidney Abnormal aortic valve morphology Wolff-Parkinson-White syndrome Right ventricular hypertrophy Premature skin wrinkling Sprengel anomaly Severe sensorineural hearing impairment Multiple cafe-au-lait spots Freckling Atrioventricular canal defect Decreased fertility Abnormality of the ear External genital hypoplasia Amblyopia Azoospermia Melanoma Synovitis Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Restrictive cardiomyopathy Pterygium Cystic hygroma Elevated alkaline phosphatase Cubitus valgus Radial deviation of finger Abnormality of the coagulation cascade Leukocytosis Abnormality of color vision Male infertility Atrial flutter Abnormality of the vertebral column Abnormality of blood and blood-forming tissues Gonadal dysgenesis Malignant hyperthermia Drusen Nonimmune hydrops fetalis Melanocytic nevus Scapular winging Postductal coarctation of the aorta Chronic lung disease Inability to walk Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Protruding ear Ataxia Hypercapnia Abnormality of the autonomic nervous system Ganglioneuroma Snoring Abnormality of temperature regulation Neoplasm of the central nervous system Central hypoventilation Abnormal pupil morphology Hypoxemia Abnormality of the endocrine system Postnatal microcephaly Increased body weight Diarrhea Depressivity Anxiety Cyanosis Abnormality of the cardiovascular system Abnormal lung morphology Abnormal autonomic nervous system physiology Chronic constipation Sleep apnea Polycythemia Hypoventilation Abnormality of the mouth Cardiorespiratory arrest Hypothermia Open mouth Bradycardia Subcutaneous nodule Abnormality of the musculature Myocardial infarction Specific learning disability Intrauterine growth retardation Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Periorbital fullness External ear malformation Irregular hyperpigmentation Hamartoma Cerebellar vermis atrophy Long fingers Paraparesis Severe global developmental delay Hyperbilirubinemia Inverted nipples Pontocerebellar atrophy Microphthalmia Telecanthus Retinopathy Flat face Overlapping toe Microcornea Febrile seizures Short palpebral fissure Thickened skin Optic nerve hypoplasia Overfolded helix Preductal coarctation of the aorta Blindness Delayed CNS myelination Optic disc pallor Sacral dimple Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Abnormal intestine morphology Spastic tetraparesis Short phalanx of finger Large fontanelles Heterotopia Pachygyria Depressed nasal ridge Tetraparesis Interphalangeal joint contracture of finger Abnormal blistering of the skin Abnormality of vision Epileptic encephalopathy Brain atrophy Polymicrogyria Oral cleft Poor speech Synophrys Abnormality of the cerebral white matter Dilated cardiomyopathy Small for gestational age Abnormality of the liver Joint stiffness Abnormality of the eye Aggressive behavior Conductive hearing impairment Delayed gross motor development Hand polydactyly Gait disturbance Aortic root aneurysm Dilation of lateral ventricles 11 pairs of ribs Abnormality of the neck Optic nerve coloboma Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Epileptic spasms Foot polydactyly Spinal canal stenosis Submucous cleft hard palate Self-injurious behavior Macule Clitoral hypertrophy Congenital sensorineural hearing impairment Hemiplegia/hemiparesis Metatarsus adductus Dysphasia Hypermelanotic macule High hypermetropia Congenital hypothyroidism Abnormal heart valve morphology Abnormality of the immune system Absent septum pellucidum Telangiectasia of the skin Slender long bone Anteriorly placed anus Kyphosis Optic atrophy Cleft lip Preauricular skin tag Vertebral fusion Vertebral segmentation defect Prolonged QT interval Supernumerary nipple Bilateral talipes equinovarus Preauricular pit Cupped ear Nephroblastoma Abnormality of the hand Accelerated skeletal maturation Multicystic kidney dysplasia Congenital hip dislocation Cardiac arrest Short toe Cerebral visual impairment Broad palm Retinal detachment Finger syndactyly Congenital cataract Toe syndactyly Thin vermilion border Short palm Postaxial polydactyly Broad nasal tip Tall stature Nail dysplasia Congenital diaphragmatic hernia Small nail Cerebellar vermis hypoplasia Omphalocele Renal dysplasia Abnormality of digit Transposition of the great arteries Visual impairment Short 2nd finger Muscle weakness Two carpal ossification centers present at birth Cyst of the ductus choledochus Cleft lower lip Submucous cleft lip Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Nephroblastomatosis Broad secondary alveolar ridge 2-3 finger syndactyly Posterior helix pit Short sacroiliac notch Penoscrotal hypospadias Enlarged kidney Abnormality of the helix Broad foot Polysplenia Diastasis recti Duodenal atresia Renal neoplasm Furrowed tongue Ureteral duplication Broad toe Ankyloglossia Increased IgE level Chordee Pancreatic islet-cell hyperplasia Cervical ribs Meckel diverticulum Wide distal femoral metaphysis


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