Neuroblastoma, and Dental crowding

Diseases related with Neuroblastoma and Dental crowding

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


Top matches:

High match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


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 ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Low match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

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Other less relevant matches:

Low match LATERAL MENINGOCELE SYNDROME


Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LATERAL MENINGOCELE SYNDROME

Low match SOTOS SYNDROME 1; SOTOS1


SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Low match NOONAN SYNDROME 1; NS1


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

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Low match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Low match SIMPSON-GOLABI-BEHMEL SYNDROME


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

Top 5 symptoms//phenotypes associated to Neuroblastoma and Dental crowding

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Neoplasm Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Neuroblastoma and Dental crowding. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures

Common Symptoms - More than 50% cases


Patent ductus arteriosus

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Failure to thrive Depressed nasal bridge Growth delay Ptosis Proptosis Ventricular septal defect Muscular hypotonia Narrow palate Epicanthus Intellectual disability, moderate Frontal bossing Low-set, posteriorly rotated ears Abnormal heart morphology Hernia Kyphosis Feeding difficulties Short neck Nystagmus Pain Microcephaly Wide nasal bridge Pectus excavatum Congenital cataract High, narrow palate Hypogonadism Macrocephaly Abnormality of the dentition Cardiomyopathy Joint hypermobility Atrial septal defect Nephroblastoma Malar flattening Bicuspid aortic valve Neurofibromas Long philtrum Anteverted nares Broad forehead Umbilical hernia Webbed neck Conductive hearing impairment Congestive heart failure Clumsiness Overgrowth Hypodontia Dolichocephaly Low posterior hairline Abnormality of the skeletal system Motor delay Sensorineural hearing impairment Amblyopia Delayed puberty Mandibular prognathia Inguinal hernia Blindness Ventriculomegaly Hypoplasia of dental enamel Macrotia Dental malocclusion Flexion contracture Hypertension Leukemia Hypospadias Gastroesophageal reflux Glaucoma Pulmonic stenosis Behavioral abnormality Agenesis of corpus callosum Low-set ears Polyhydramnios Constipation Abnormality of the kidney

Rare Symptoms - Less than 30% cases


Small nail Thrombocytopenia Depressivity Microphthalmia Upslanted palpebral fissure Narrow mouth Reduced visual acuity Polydactyly Neonatal hypotonia Respiratory distress Hypermetropia Carcinoma Hyperreflexia Thin upper lip vermilion Retrognathia Supernumerary nipple Deeply set eye Bruising susceptibility Macroglossia EEG abnormality Abnormality of the genital system Short toe Premature ovarian insufficiency Radial deviation of finger High pitched voice Pes planus Aplasia/Hypoplasia of the earlobes Prolonged QT interval Asymmetry of the thorax Pointed chin Lymphedema Tall stature Irritability Cognitive impairment Aggressive behavior Attention deficit hyperactivity disorder Joint stiffness Renal dysplasia Abnormality of the voice Nasal speech Arnold-Chiari malformation Osteolysis Increased bone mineral density Narrow face Abnormal vertebral morphology Smooth philtrum Dandy-Walker malformation Slender long bone Hydronephrosis Arrhythmia Retinal detachment Kyphoscoliosis Posteriorly rotated ears Hypothyroidism Clinodactyly of the 5th finger Diabetes mellitus Hypoplasia of the corpus callosum Vertebral fusion Reduced number of teeth Camptodactyly of finger Syndactyly Joint laxity Coarse facial features Hip dislocation Prominent forehead Carious teeth Hyperactivity Genu valgum Joint hyperflexibility Delayed eruption of teeth Hypercholesterolemia Abnormal bleeding Abnormality of the ribs Prominent superficial veins Osteoarthritis Hepatomegaly Osteolytic defects of the phalanges of the hand Arnold-Chiari type I malformation Aminoaciduria Azoospermia Neurological speech impairment Accelerated skeletal maturation Microtia Flared iliac wings Edema Keloids Splenomegaly Abnormality of cardiovascular system morphology Cyanosis Tethered cord Nail dysplasia Hypertrophic cardiomyopathy Sparse hair Growth hormone deficiency Hypotrichosis Facial asymmetry Triangular face Abdominal distention Thin vermilion border Insulin resistance Left ventricular hypertrophy Infertility Patellar dislocation Poor coordination Congenital glaucoma Short nose Iris coloboma Exotropia Stereotypy Recurrent fractures Broad thumb Coarctation of aorta Convex nasal ridge Otitis media Delayed speech and language development Low hanging columella Anemia Talipes equinovarus Acanthosis nigricans Abnormal glucose tolerance Postnatal growth retardation Feeding difficulties in infancy Obesity Micropenis Relative macrocephaly Respiratory tract infection High forehead Coloboma Premature coronary artery atherosclerosis Thin nail Gonadal neoplasm Decreased serum estradiol Reduced factor XIII activity Alopecia Nasogastric tube feeding Absence of subcutaneous fat Hyperinsulinemia Hip pain Aplastic clavicle Prolonged prothrombin time Midface retrusion Decreased testosterone in males Narrow nasal ridge Arteriosclerosis Postductal coarctation of the aorta Carcinoid tumor Skeletal muscle atrophy Preductal coarctation of the aorta Sparse and thin eyebrow Sinus tachycardia Bird-like facies Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Hypoplastic facial bones Lipodystrophy Superior pectus carinatum Reduced factor XII activity Prominent scalp veins Mitral valve calcification Pectus excavatum of inferior sternum Neurofibrosarcoma Panuveitis Juvenile myelomonocytic leukemia Dermal atrophy Parietal bossing Widely patent fontanelles and sutures Intermittent claudication Corneal arcus Thin bony cortex Loose anagen hair Dementia Precocious atherosclerosis Osteoporosis Myocardial infarction Exertional dyspnea Alopecia of scalp Lipoatrophy Absence of pubertal development Atherosclerosis Coxa valga Abnormality of the cardiovascular system Hypogonadotrophic hypogonadism Cardiomegaly Short clavicles Hypergonadotropic hypogonadism Premature graying of hair Hypertriglyceridemia Renal cell carcinoma Aspiration Hypoplastic nipples Keratoconjunctivitis sicca Thin skin Aortic valve stenosis Scleroderma Thin ribs Broad-based gait Decreased body weight Hyperlipidemia Limitation of joint mobility Dyspnea Narrow chest Enlarged joints Hypohidrosis Osteopenia Small face Stroke Generalized osteoporosis Lack of skin elasticity Angina pectoris Metaphyseal widening Dilated cardiomyopathy Ovoid vertebral bodies Hyperphosphatemia Chest pain Down-sloping shoulders Fragile nails Transient ischemic attack Abnormality of the thorax Intracranial hemorrhage Absent eyelashes Abnormal EKG Heart murmur Thrombocytosis Multiple joint contractures Hepatic steatosis Carotid artery stenosis Ectopia pupillae Insulin-resistant diabetes mellitus at puberty Cardiac arrest Hypoplasia of penis Congenital diaphragmatic hernia Cerebellar vermis hypoplasia Omphalocele Cerebral visual impairment Preauricular skin tag Hoarse voice Congenital hip dislocation Intestinal malrotation Multicystic kidney dysplasia Narrow palpebral fissure Abnormality of the hand Cupped ear Preauricular pit Large for gestational age Bilateral talipes equinovarus Postaxial hand polydactyly Bifid uvula Bundle branch block Toe syndactyly Cleft palate Hydrocephalus Intellectual disability, severe Hypoglycemia Cleft lip Wide mouth Finger syndactyly Cleft upper lip Broad nasal tip Short palm Short distal phalanx of finger Wide nose Postaxial polydactyly Thick vermilion border Short foot Renal cyst Hydroureter Vertebral segmentation defect Constrictive pericarditis Broad secondary alveolar ridge Broad toe Penoscrotal hypospadias Short 2nd finger Short sacroiliac notch Posterior helix pit 2-3 finger syndactyly Narrow sacroiliac notch Nephroblastomatosis Hepatoblastoma 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 Embryonal neoplasm Meckel diverticulum Abnormality of digit Duodenal atresia Broad palm Transposition of the great arteries Abnormal lung lobation Enlarged kidney Broad foot Polysplenia Diastasis recti Renal neoplasm Cervical ribs Furrowed tongue Abnormality of the helix Aplasia/Hypoplasia of the abdominal wall musculature Ureteral duplication Ankyloglossia Increased IgE level Chordee Pancreatic islet-cell hyperplasia Pericardial constriction Hypoplastic frontal sinuses Abnormal trabecular bone morphology Aniridia Anosmia Bilateral ptosis Ectopia lentis Anophthalmia Albinism Adrenal insufficiency Hypopituitarism Limb hypertonia Opacification of the corneal stroma Hypoplasia of the iris Hand tremor Hypoplasia of the fovea Action tremor Hypoplastic aortic arch Hyposmia Peters anomaly Optic nerve hypoplasia Type I diabetes mellitus Ocular pain Gait ataxia Regional abnormality of skin Arteriosclerosis of small cerebral arteries Tapering pointed ends of distal finger phalanges Ataxia Tremor Hypertonia Visual loss Rigidity Recurrent urinary tract infections Muscular hypotonia of the trunk Arachnodactyly Falls Polymicrogyria Hypopigmentation of the skin Microcornea Choanal atresia Decreased light- and dark-adapted electroretinogram amplitude Lower limb hypertonia J-shaped sella turcica Pericarditis Pigmentary retinopathy Type II diabetes mellitus Epidermal acanthosis Increased body weight Reduced tendon reflexes Cachexia Pulmonary fibrosis Insulin-resistant diabetes mellitus Nevus Scaphocephaly Microglossia Myocardial fibrosis Weak voice Fibroma Peripheral edema Absent frontal sinuses Decreased antibody level in blood Ascites Central hypothyroidism Hypoplasia of the antihelix Retinal vascular tortuosity Macular hypoplasia Vascular tortuosity Central adrenal insufficiency Aphakia Lumbar kyphosis Aplasia/Hypoplasia of the macula Increased proinsulin:insulin ratio Cirrhosis Dysarthria Intrauterine growth retardation Severe short stature Hepatosplenomegaly Abnormality of the nervous system Retinopathy Small for gestational age Astigmatism Amegakaryocytic thrombocytopenia Teratoma Lymphangioma Hyporeflexia Full cheeks Metabolic acidosis Everted lower lip vermilion Hematuria Long face Malabsorption Platyspondyly Corneal opacity Protruding ear Proteinuria Anxiety Arthritis Acidosis Recurrent respiratory infections Areflexia Aciduria Flat forehead Protruding tongue Myelomeningocele Osteosarcoma Brain neoplasm Hypochromic microcytic anemia Hypochromic anemia Reduced alpha/beta synthesis ratio Renal insufficiency Hemoglobin H Triangular nasal tip Neurocytoma Visual impairment Respiratory insufficiency Autism Increased serum lactate Dehydration Microcytic anemia Hypophosphatemia Chronic otitis media Hyponatremia Obsessive-compulsive behavior Flat occiput Diabetes insipidus Open bite Dysphasia Glomerulonephritis Pathologic fracture Hyperparathyroidism Abnormal joint morphology Glomerulopathy Osteomalacia Renal tubular acidosis Self-injurious behavior Rickets Fine hair Clonus Sparse scalp hair Open mouth Abnormality of the metaphysis Subcutaneous nodule Nephrolithiasis Abnormality of epiphysis morphology Skin ulcer Hypokalemia Joint contracture of the hand Nephrocalcinosis Abnormality of dental enamel Neoplasm of the skin Deep philtrum Hypercalciuria Underdeveloped supraorbital ridges Aplasia/Hypoplasia of the eyebrow Multiple renal cysts Hypoplastic iliac wing Thick eyebrow Shawl scrotum Overweight Self-mutilation Obstructive sleep apnea Capillary hemangioma Short attention span Hirsutism Meningioma Dyslexia Abnormality of refraction Avascular necrosis of the capital femoral epiphysis Pheochromocytoma Medulloblastoma Dislocated radial head Truncal obesity Nasolacrimal duct obstruction Wide anterior fontanel Hypoplasia of the maxilla Mitral regurgitation Aganglionic megacolon Long eyelashes Single transverse palmar crease Cafe-au-lait spot Low anterior hairline Delayed cranial suture closure Highly arched eyebrow Spina bifida occulta Recurrent upper respiratory tract infections Laryngomalacia Impulsivity Broad hallux Abnormal cornea morphology Rhabdomyosarcoma Polycystic kidney dysplasia Radial deviation of thumb terminal phalanx Deviated nasal septum Talon cusp Enlarged tonsils Papillary cystadenoma of the epididymis High axial triradius Abnormal number of teeth Plantar crease between first and second toes Narrow maxilla Unsteady gait Fatigue Abnormality of the pinna Pectus carinatum Talipes Spina bifida Premature thelarche Large foramen magnum Broad distal phalanx of finger Frontal upsweep of hair Phonophobia Facial grimacing Abnormality of the cervical spine Parietal foramina Short upper lip Bimanual synkinesia Prominent fingertip pads Agoraphobia Duane anomaly Chorioretinal dystrophy Dyscalculia Duplication of phalanx of hallux Vascular ring Bifid uterus Joint swelling Atypical scarring of skin Optic disc hypoplasia Oxycephaly Vomiting Fever Myopia Brachydactyly Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla Prominent nose Hamartomatous polyposis Overbite Periventricular leukomalacia Cavum septum pellucidum Headache Large hands Apraxia Heterotopia Abnormal dermatoglyphics Cutis laxa Redundant skin Precocious puberty Agenesis of permanent teeth Advanced eruption of teeth Partial agenesis of the corpus callosum Prolonged neonatal jaundice Acute lymphoblastic leukemia High anterior hairline Enlarged cisterna magna Long foot Intellectual disability, mild Dilatation Dysphagia Drusen Cystic hygroma Male infertility Abnormality of the vertebral column Abnormality of blood and blood-forming tissues Gonadal dysgenesis Malignant hyperthermia Nonimmune hydrops fetalis Leukocytosis Atrial flutter Restrictive cardiomyopathy Shield chest Synovitis Schwannoma Multiple lentigines Abnormality of color vision Abnormality of the coagulation cascade Clinodactyly Primary amenorrhea Rod-cone dystrophy Abdominal pain Abnormal cardiac septum morphology Wide intermamillary distance Amenorrhea Ventricular hypertrophy Plagiocephaly Cubitus valgus Poor suck Pterygium Elevated alkaline phosphatase Failure to thrive in infancy Patent foramen ovale Myelodysplasia Sloping forehead Renal agenesis Gingivitis Odontogenic neoplasm Abnormality of calcium-phosphate metabolism Elevated serum acid phosphatase Benign neoplasm of the central nervous system Periventricular cysts Elevated amniotic fluid alpha-fetoprotein Finger swelling Elevated maternal serum alpha-fetoprotein Oligosacchariduria Bicarbonaturia Abnormality of dentin Lentiglobus Wrist swelling Hypoammonemia Dense posterior cortical cataract Chorioretinal dysplasia Vitamin D deficiency Gait disturbance Hyperphosphaturia Hyperaldosteronism Periodontitis Taurodontia Renal tubular dysfunction Generalized hypopigmentation Atelectasis Buphthalmos Proximal renal tubular acidosis Abnormal pupil morphology Lacrimation abnormality Abnormality of the renal tubule Cheilitis Renal Fanconi syndrome Urogenital fistula Peripheral neuropathy Delayed skeletal maturation Vesicoureteral reflux Sclerosis of skull base Craniofacial hyperostosis Abnormality of the rib cage Generalized osteosclerosis Low back pain Platybasia Biconcave vertebral bodies Large sella turcica Arachnoid cyst Dural ectasia Abnormality of the middle ear ossicles Basilar impression Short nasal bridge Optic atrophy Jaundice Meningocele Syringomyelia Telecanthus Abnormal form of the vertebral bodies Apnea Hyperlordosis Scarring Immunodeficiency Urinary incontinence Abnormality of the skin Wormian bones Prominent metopic ridge Microretrognathia Sleep apnea Coarse hair Atresia of the external auditory canal Back pain Thickened calvaria Two carpal ossification centers present at birth



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hydrocephalus and Iris coloboma, related diseases and genetic alterations Skeletal muscle atrophy and Hepatomegaly, related diseases and genetic alterations Cleft palate and Hypertrichosis, related diseases and genetic alterations Muscle weakness and Arachnodactyly, related diseases and genetic alterations Leukemia and Postaxial polydactyly, related diseases and genetic alterations Microcephaly and Dental malocclusion, related diseases and genetic alterations Global developmental delay and Vomiting, related diseases and genetic alterations

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