Macrocephaly, and Tetralogy of Fallot

Diseases related with Macrocephaly and Tetralogy of Fallot

In the following list you will find some of the most common rare diseases related to Macrocephaly and Tetralogy of Fallot that can help you solving undiagnosed cases.

Top matches:

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.

AUTOSOMAL RECESSIVE ROBINOW SYNDROME Is also known as covesdem syndrome|rrs|costovertebral segmentation defect-mesomelia syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ROBINOW SYNDROME

Other less relevant matches:

The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Medium match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Medium match FRYNS SYNDROME

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

FRYNS SYNDROME Is also known as diaphragmatic hernia, abnormal face, and distal limb anomalies|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRYNS SYNDROME

Medium match YUNIS-VARON SYNDROME

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Tetralogy of Fallot

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hypertelorism Very Common - Between 80% and 100% cases
Atrial septal defect Very Common - Between 80% and 100% cases
Cryptorchidism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Tetralogy of Fallot. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect

Common Symptoms - More than 50% cases

Abnormality of the skeletal system

Uncommon Symptoms - Between 30% and 50% cases

Hydrocephalus

Common Symptoms - More than 50% cases

Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Ptosis

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Cataract Cleft palate Intrauterine growth retardation Dilatation Wide nasal bridge Micrognathia Dandy-Walker malformation Abnormal cardiac septum morphology Muscular hypotonia Strabismus Seizures Hypospadias Small nail Frontal bossing Inguinal hernia Micropenis Coarse facial features Delayed speech and language development Feeding difficulties Growth delay Postural instability Agenesis of corpus callosum Long philtrum Coarctation of aorta Kyphosis Abnormality of cardiovascular system morphology Anteverted nares Brachydactyly Cleft lip Cerebellar hypoplasia Upslanted palpebral fissure Oral cleft Recurrent respiratory infections Autistic behavior Respiratory distress Wide mouth Gastroesophageal reflux Low-set, posteriorly rotated ears Patent ductus arteriosus Hydronephrosis Glaucoma Epicanthus Intellectual disability, mild Behavioral abnormality Ventriculomegaly Failure to thrive Tented upper lip vermilion Sacral dimple Ectopic anus Microphthalmia Long eyelashes Clinodactyly Severe global developmental delay Hypoplasia of penis Hypodontia Precocious puberty Hypertrophic cardiomyopathy Renal artery stenosis Hypertension Renal agenesis Intestinal malrotation Visual impairment Pulmonic stenosis Broad forehead Postnatal growth retardation Feeding difficulties in infancy High forehead Pain Single transverse palmar crease High palate Camptodactyly Aplasia/Hypoplasia of the nipples Flexion contracture Anonychia Cerebellar vermis hypoplasia Partial agenesis of the corpus callosum Preauricular skin tag Hernia Growth hormone deficiency Broad nasal tip Renovascular hypertension Hypotrichosis Short distal phalanx of finger Thin upper lip vermilion Toe syndactyly Umbilical hernia Short neck Short nose Attention deficit hyperactivity disorder Intellectual disability, moderate Postaxial polydactyly Clinodactyly of the 5th finger Alopecia Vesicoureteral reflux Autism Downslanted palpebral fissures Hypoplasia of the corpus callosum Short philtrum

Rare Symptoms - Less than 30% cases

Delayed skeletal maturation Hypogonadism Polydactyly Paralysis Syndactyly Hypotelorism Renal hypoplasia Renal insufficiency Abnormality of pelvic girdle bone morphology Abnormality of the kidney Schizophrenia Rectal prolapse Sparse hair Abnormality of finger Astigmatism Hypoglycemia Bifid nose Tapered finger Myopia Osteopenia Dysarthria Thick vermilion border Thick lower lip vermilion Kyphoscoliosis Cardiomyopathy Blindness Depressivity Thin ribs Joint laxity Osteoporosis Abdominal pain Rocker bottom foot Anal atresia Abnormality of dental morphology Corneal opacity Premature birth Edema Spina bifida occulta Hyperactivity Posterior embryotoxon Hypertonia Enlarged cisterna magna Congenital diaphragmatic hernia Blepharophimosis Cerebral cortical atrophy Hypoplastic fingernail Talipes equinovarus Spasticity Complete atrioventricular canal defect Neoplasm Unilateral renal agenesis Neurological speech impairment Limb undergrowth Specific learning disability Median cleft lip High, narrow palate Abnormality of digit Hip dislocation Short thumb Amblyopia Anxiety Large fontanelles Aortic valve stenosis Horseshoe kidney Hemivertebrae Cognitive impairment Choanal atresia Increased body weight Finger syndactyly Malabsorption Facial cleft Macrotia Short clavicles Genu valgum Brachycephaly Gait imbalance Abnormality of the dentition Midface retrusion Pectus excavatum Nystagmus Reduced bone mineral density Polyhydramnios Incoordination Abnormal aortic morphology Increased nuchal translucency Nevus flammeus Irritability Coloboma Abnormality of the pinna Abnormality of the hip bone Vertebral segmentation defect Mesomelia Open bite Chronic otitis media Protruding ear Clitoral hypertrophy Proptosis Multicystic kidney dysplasia Gingival overgrowth Abnormality of the neck Cardiomegaly Sparse scalp hair Craniosynostosis Hypothyroidism Abnormal tricuspid valve morphology Abnormality of the cardiovascular system Cystic renal dysplasia Anophthalmia Wormian bones Mitral valve prolapse Hypsarrhythmia Arnold-Chiari malformation Arrhinencephaly Aganglionic megacolon Absent nipple Joint contracture of the hand Overweight Heterotopia Abnormality of the face Omphalocele Wide nose Generalized hypertrichosis Hypotrichosis of the scalp Hypoplastic fifth fingernail Anterior pituitary hypoplasia Lumbosacral hirsutism Tics Short 5th finger Short distal phalanx of the 5th toe Abnormality of the head Aplasia/Hypoplasia of the patella Ataxia Patellar hypoplasia Sensorineural hearing impairment Hyperreflexia Aplasia of the uterus Congestive heart failure Gastric ulcer Facial hypertrichosis Duodenal ulcer Obesity Gait disturbance Elevated serum creatine phosphokinase Tremor Intussusception Malar flattening Constipation Recurrent hypoglycemia Hepatoblastoma Absent speech Premature thelarche Severe expressive language delay Ectopic posterior pituitary Neoplasm of the liver Prominent interphalangeal joints Short distal phalanx of the 5th finger Myopathy Short sternum Shortening of all distal phalanges of the toes Dislocated radial head Aplasia/Hypoplasia of the clavicles Aplasia/Hypoplasia of the middle phalanges of the hand Multiple skeletal anomalies Hypoplasia of the frontal lobes Aplasia/Hypoplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the nails Hypoplastic facial bones Gingival recession Short upper lip Abnormality of the scapula Generalized hypotrichosis Broad secondary alveolar ridge Absent sternal ossification Bilateral external ear deformity Aplasia/Hypoplasia of the hallux Generalized neonatal hypotonia Wide cranial sutures Aplasia of the 1st metacarpal Sclerocornea Severe hearing impairment Abnormality of blood and blood-forming tissues Aplasia/Hypoplasia of the thumb Inverted nipples Glossoptosis Severe failure to thrive Hypoplastic labia majora Congenital microcephaly Hypoplastic scapulae Decreased skull ossification Redundant neck skin Premature loss of primary teeth Bilateral microphthalmos Small earlobe Aplastic clavicle Slender long bones with narrow diaphyses Arthralgia Ectopic kidney Tall stature Thick eyebrow Hirsutism Delayed eruption of teeth Eczema Decreased fetal movement Hypertrichosis Low anterior hairline Confusion Generalized hirsutism Coxa valga Accelerated skeletal maturation Hemangioma Elevated alkaline phosphatase Cutis marmorata Bulbous nose Synophrys Short proximal phalanx of hallux Narrow nasal base Abnormal pelvis bone morphology Tapered toe Abnormal parietal bone morphology Abnormality of the occipital bone Abnormality of dental structure Aplasia/Hypoplasia of the scapulae Aplasia/Hypoplasia of the proximal phalanx of the hallux Respiratory tract infection Aplasia of the distal phalanges of the hand Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanx of the hallux Vomiting Recurrent infections Posteriorly rotated ears Aggressive behavior Diabetes mellitus Nephritis Pes planus Dysgraphia Subvalvular aortic stenosis Abnormal renal morphology Lacrimation abnormality Bladder diverticulum Peptic ulcer Periorbital edema Arterial stenosis Abnormality of nervous system morphology Decreased plasma carnitine Phonophobia Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Retinal vascular tortuosity Thyroid hypoplasia Abnormal endocardium morphology Peripheral pulmonary artery stenosis Periorbital fullness Renal duplication Chronic constipation Abnormality of the vasculature Patellar dislocation Multiple renal cysts Down-sloping shoulders Vocal cord paralysis Blue irides Hypoplasia of the zygomatic bone Right ventricular hypertrophy Abnormality of refraction Tubulointerstitial nephritis Large earlobe Abnormality of the cerebral vasculature Enuresis Villous atrophy Dyslexia Cerebral ischemia Aplasia/Hypoplasia of the iris Colonic diverticula Poor coordination Thyroid hemiagenesis Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Nystagmus-induced head nodding Calcification of the aorta Overfriendliness Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Unilateral renal hypoplasia Impaired visuospatial constructive cognition Vascular tortuosity Abnormality of the bladder Abnormality of the ankles Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Nocturia Synostosis of joints Coronary artery stenosis Supravalvular aortic stenosis Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Abnormal social behavior Flat cornea Pulmonary artery stenosis Soft skin Proteinuria Hemiparesis Microdontia Dehydration Narrow forehead Abnormality of extrapyramidal motor function Type II diabetes mellitus Ventricular hypertrophy Myocardial infarction Recurrent otitis media Esotropia Open mouth Mitral regurgitation Abnormal form of the vertebral bodies Involuntary movements Recurrent urinary tract infections Nephrolithiasis Hoarse voice Otitis media Dental malocclusion Increased bone mineral density Carious teeth Developmental regression Hyperlordosis Joint stiffness Scarring Stroke Small for gestational age Nausea and vomiting Joint hyperflexibility Chest pain Smooth philtrum Dysmetria Everted lower lip vermilion Sleep disturbance Macroglossia Full cheeks Sudden cardiac death Narrow face Pointed chin Arnold-Chiari type I malformation Hallux valgus Short finger Obsessive-compulsive behavior Hypoplastic toenails Tracheoesophageal fistula Glucose intolerance Polyuria Loss of consciousness Premature graying of hair Portal hypertension Celiac disease High hypermetropia Prematurely aged appearance Restlessness Insomnia Megalocornea Abnormality of lipid metabolism Abnormality of the voice Radioulnar synostosis Hypogonadotrophic hypogonadism Bicuspid aortic valve Nephrocalcinosis Abnormality of dental enamel Abnormality of the fingernails Cutis laxa Abnormal dermatoglyphics Progressive hearing impairment Widely spaced teeth Ischemic stroke Failure to thrive in infancy Infantile muscular hypotonia Adducted thumb Polycystic ovaries Dysphonia Hypercalciuria Cholelithiasis Redundant skin Hypercalcemia Absent thumb Abnormality of the nervous system Aplasia/Hypoplasia of the eyebrow Hypoplastic left heart Narrow palate Abnormality of the hand Hand polydactyly Chorioretinal coloboma Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Prominent occiput Decreased antibody level in blood Congenital glaucoma Atrioventricular canal defect Narrow nasal bridge Adrenal hypoplasia Double outlet right ventricle Pierre-Robin sequence Low posterior hairline Bifid uvula Single umbilical artery Pectoral muscle hypoplasia/aplasia Widely-spaced maxillary central incisors Scleral staphyloma Morning glory anomaly Cranium bifidum occultum Lipoma of corpus callosum Frontal cutaneous lipoma Midline facial cleft Iris coloboma Anterior basal encephalocele Optic atrophy Immunodeficiency Prominent forehead Skeletal dysplasia Prominent nasal bridge Missing ribs Communicating hydrocephalus Absent tibia Overgrowth Paresthesia Peripheral axonal neuropathy Abnormality of skin pigmentation Recurrent fractures Lymphoma Gastrointestinal hemorrhage Cafe-au-lait spot Pruritus Bone pain Sensorimotor neuropathy Spina bifida Atherosclerosis Venous thrombosis Breast carcinoma Facial asymmetry Leukemia Mitral stenosis Humoral immunodeficiency Abnormal mitral valve morphology Lethal skeletal dysplasia Abnormality of the fontanelles or cranial sutures Posterior fossa cyst Contractures of the large joints Facial hemangioma Cerebellar malformation Weight loss Primum atrial septal defect Anemia Peripheral neuropathy Respiratory insufficiency Headache Visual loss Hypoplastic frontal sinuses Median cleft palate Back pain Long palpebral fissure Broad thumb Bilateral single transverse palmar creases Sandal gap Abnormal palate morphology Disproportionate short-limb short stature Elbow dislocation Increased number of teeth Blue sclerae Synostosis of carpal bones Broad hallux phalanx Bifid tongue Rib fusion Ankyloglossia Fingernail dysplasia Split hand Downturned corners of mouth Exaggerated cupid's bow Short palpebral fissure Arthrogryposis multiplex congenita Hip dysplasia Hallucinations Relative macrocephaly Constrictive median neuropathy Ambiguous genitalia Trigonocephaly Pectus carinatum Cupped ear Short femoral neck Neurodevelopmental delay Anteriorly placed anus Flat acetabular roof Camptodactyly of finger Abnormal pulmonary valve morphology Hypoplastic female external genitalia Parietal foramina Widow's peak Occipital encephalocele Lipoma Meningocele Coronal craniosynostosis Short columella Calvarial skull defect Preaxial foot polydactyly Adrenal insufficiency Conical tooth Bifid nasal tip Alopecia totalis Broad philtrum Agenesis of cerebellar vermis Broad columella Multiple lipomas Diabetes insipidus Motor delay Postaxial hand polydactyly Conductive hearing impairment Telecanthus Talipes Hypoplasia of the maxilla Underdeveloped nasal alae Decreased testicular size Oligohydramnios Radial deviation of finger Fine hair Encephalocele Abnormality of the genital system Lymphedema Scrotal hypoplasia Easy fatigability Preaxial polydactyly Sarcoma Sensory axonal neuropathy Flared metaphysis Abnormality of the helix Bilateral cleft lip and palate Retinal dysplasia Asplenia Duodenal atresia Broad ribs Bicornuate uterus Ovarian cyst Truncus arteriosus Ureteral duplication Interrupted aortic arch Chylothorax Aplasia cutis congenita of scalp Gastroschisis Shortening of all distal phalanges of the fingers Polysplenia Bilateral cleft lip Gastroparesis Non-midline cleft lip Proximal placement of thumb Bifid scrotum Large for gestational age Hydroureter Thoracic hypoplasia Hypoplasia of the uterus Cystic hygroma Thickened nuchal skin fold Hypoplastic nipples Atrophy/Degeneration affecting the brainstem Oligodactyly Shawl scrotum Esophageal atresia Broad neck Meckel diverticulum Prominent fingertip pads Abnormality of the genitourinary system Short chin Pachygyria Short phalanx of finger Hydrops fetalis Sparse and thin eyebrow Short toe Short ribs Sparse eyelashes Neuronal loss in central nervous system Abnormality of the urinary system Pyloric stenosis Sparse eyebrow Absent eyebrow Short middle phalanx of finger Metatarsus adductus Pulmonary arterial hypertension Hypopigmentation of the skin Abnormality of the diaphragm Postaxial oligodactyly Bilateral choanal atresia Urethral stricture Broad clavicles Abnormal aortic arch morphology Facial hirsutism Hypoplasia of olfactory tract Absent left hemidiaphragm Thin vermilion border Ectopic pancreatic tissue Hypoplasia of the optic tract Hepatomegaly Narrow mouth Microtia Dolichocephaly Pterygium Abnormality of the outer ear Hypophosphatemia Glioma Anomalous pulmonary venous return Night sweats Paraganglioma Carcinoid tumor Rhabdomyosarcoma Nasolacrimal duct obstruction Schwannoma Parathyroid adenoma Renal phosphate wasting Chronic myelogenous leukemia Lisch nodules Neoplasm of the central nervous system Gastrointestinal stroma tumor Fibular bowing Pheochromocytoma Aqueductal stenosis Dural ectasia Renal cell carcinoma Pulmonary fibrosis Neurofibromas Tibial bowing Freckling Multiple cafe-au-lait spots Osteomalacia Severe vision loss Astrocytoma Increased reactive oxygen species production Gangrene Meningioma Neoplasm of the endocrine system Myocardial fibrosis Brain neoplasm Leiomyosarcoma Epigastric pain Microretrognathia Gliosis Retrognathia Abnormality of the eye Narrow chest Cleft upper lip Pulmonary hypoplasia Renal cyst Wide intermamillary distance Areflexia Intellectual disability, profound Depressed nasal ridge Renal dysplasia Finger clinodactyly Opacification of the corneal stroma Narrow palpebral fissure Myoclonus Brow ptosis Soft tissue sarcoma Neurofibrosarcoma Pseudoarthrosis Single ventricle Axillary freckling Embryonal rhabdomyosarcoma Vestibular Schwannoma Neuroma Optic nerve glioma Tibial pseudoarthrosis Subcutaneous neurofibromas Acute promyelocytic leukemia Plexiform neurofibroma Inguinal freckling Spinal neurofibromas Arterial fibromuscular dysplasia Cerebral artery stenosis Atrophy/Degeneration involving the corticospinal tracts


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