Hydrocephalus, and Tetralogy of Fallot

Diseases related with Hydrocephalus and Tetralogy of Fallot

In the following list you will find some of the most common rare diseases related to Hydrocephalus 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

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

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

Other less relevant matches:

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011). Genetic Heterogeneity of Carpenter SyndromeCarpenter syndrome-2 (CRPT2 ), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (OMIM ).

CARPENTER SYNDROME 1; CRPT1 Is also known as carpenter syndrome|acrocephalopolysyndactyly type ii|acps ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CARPENTER SYNDROME 1; CRPT1

Medium match NAGER SYNDROME

Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

NAGER SYNDROME Is also known as afd, nager type|mandibulofacial dysostosis, treacher collins type, with limb anomalies|preaxial acrodysostosis|nager acrofacial dysostosis|nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|nafd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NAGER SYNDROME

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

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

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

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormality of cardiovascular system morphology Very Common - Between 80% and 100% cases
Scoliosis Very Common - Between 80% and 100% cases
Atrial septal defect Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Ventricular septal defect

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

Microcephaly

Common Symptoms - More than 50% cases

Patent ductus arteriosus

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism

Common Symptoms - More than 50% cases

Abnormality of the skeletal system

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Camptodactyly Low-set ears Brachydactyly Hypospadias Hypertelorism Seizures Generalized hypotonia Syndactyly Talipes equinovarus Abnormal cardiac septum morphology Macrocephaly Dilatation Pulmonic stenosis Ventriculomegaly Intrauterine growth retardation Cleft lip Hydronephrosis Growth delay Conductive hearing impairment Anal atresia Renal agenesis Preauricular skin tag Toe syndactyly Premature birth Strabismus Muscular hypotonia Cataract Hearing impairment Delayed speech and language development Short neck Hernia Micrognathia Unilateral renal agenesis Clinodactyly Polydactyly Ptosis Hypoplasia of the maxilla Wide nasal bridge Hypoplastic fingernail Agenesis of corpus callosum Brachycephaly Double outlet right ventricle Postaxial polydactyly Depressed nasal bridge Low-set, posteriorly rotated ears Dandy-Walker malformation Short thumb Abnormal facial shape Aganglionic megacolon Retrognathia Limb undergrowth High palate Non-midline cleft lip Multicystic kidney dysplasia Spina bifida Renal dysplasia Joint contracture of the hand Omphalocele Choanal atresia Congenital diaphragmatic hernia Intestinal malrotation Aortic valve stenosis Polyhydramnios Anemia Preaxial polydactyly Hypoplastic left heart Vesicoureteral reflux Failure to thrive Finger syndactyly Specific learning disability Glaucoma Hypoplasia of the corpus callosum Hyperactivity Microphthalmia Talipes Intellectual disability, mild Cleft upper lip Coarctation of aorta Abnormality of the kidney Cognitive impairment Frontal bossing Behavioral abnormality Small nail Cerebellar hypoplasia Alopecia Prominent nasal bridge Gastroesophageal reflux

Rare Symptoms - Less than 30% cases

Hallucinations Wide mouth Hypoplasia of penis Pulmonary hypoplasia Skeletal dysplasia Hip dislocation Large fontanelles Attention deficit hyperactivity disorder Posteriorly rotated ears Schizophrenia Hypertension Facial asymmetry Preaxial foot polydactyly Radial deviation of finger Partial agenesis of the corpus callosum Occipital encephalocele Facial cleft Median cleft lip Meningocele Coronal craniosynostosis Velopharyngeal insufficiency Interrupted aortic arch Overweight Bifid nose Gastroschisis Bicornuate uterus Congestive heart failure Hemivertebrae Postnatal growth retardation Autistic behavior Hemiparesis Intellectual disability, moderate Midface retrusion Hemifacial hypoplasia Cystic hygroma Perineal fistula Autism Hydroureter Optic atrophy Malar flattening Obesity Polysplenia Clinodactyly of the 5th finger Kyphoscoliosis Umbilical hernia Abnormality of the pinna Genu valgum Precocious puberty Blepharophimosis Opacification of the corneal stroma Narrow palpebral fissure Hypertonia Abnormality of the outer ear Downslanted palpebral fissures Respiratory distress Hypoplasia of the radius Anophthalmia Radioulnar synostosis Triphalangeal thumb Bifid scrotum Anxiety Respiratory insufficiency Feeding difficulties Duodenal atresia Pain Transposition of the great arteries Absent radius Aplasia/Hypoplasia of the radius Esophageal atresia Split hand Missing ribs Single umbilical artery Truncus arteriosus Aqueductal stenosis Thrombocytopenia Hypogonadism Pierre-Robin sequence Postural instability Abnormality of the lower limb Oral cleft Chylothorax Coloboma Craniosynostosis Pulmonary artery atresia Sparse hair Telecanthus Hypothyroidism Leukemia Long philtrum Ectopic anus Anteverted nares Polymicrogyria Epicanthus Motor delay Short distal phalanx of finger Bifid uvula Gastrointestinal hemorrhage Low posterior hairline Flexion contracture Posterior embryotoxon Abnormality of the hand Absent toe Aplasia cutis congenita of scalp Calvarial skull defect Broad forehead Depressivity Bicuspid aortic valve Postaxial hand polydactyly Immunodeficiency Oligodactyly Abnormality of the genital system Heterotopia Abnormality of the face Blindness Osteopenia Growth hormone deficiency Complete atrioventricular canal defect Inguinal hernia Aplasia/Hypoplasia of the nipples Underdeveloped nasal alae Encephalocele Pseudoarthrosis Recurrent infections Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Cerebellar atrophy Paresthesia Vestibular Schwannoma Dysarthria Single ventricle Cardiomyopathy Embryonal rhabdomyosarcoma Renal artery stenosis Renovascular hypertension Axillary freckling Pruritus Headache Intellectual disability, severe Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Paralysis Hypertrophic cardiomyopathy Arterial fibromuscular dysplasia Fever Hypoglycemia Spinal neurofibromas Inguinal freckling Neuroma Malabsorption Weight loss Osteoporosis Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Visual loss Optic nerve glioma Neurofibrosarcoma Soft tissue sarcoma Venous thrombosis Lymphoma Neoplasm of the endocrine system Carcinoid tumor Paraganglioma Night sweats Anomalous pulmonary venous return Pheochromocytoma Parathyroid adenoma Astrocytoma Brain neoplasm Myocardial fibrosis Dementia Meningioma Sensory axonal neuropathy Gangrene Increased reactive oxygen species production Hypophosphatemia Severe vision loss Renal cell carcinoma Osteomalacia Pulmonary fibrosis Neurofibromas Multiple cafe-au-lait spots Freckling Tibial bowing Rhabdomyosarcoma Nasolacrimal duct obstruction Epigastric pain Reduced bone mineral density Overgrowth Dural ectasia Abnormality of the cardiovascular system Leiomyosarcoma Fibular bowing Mitral valve prolapse Hypsarrhythmia Cafe-au-lait spot Bone pain Sensorimotor neuropathy Atherosclerosis Breast carcinoma Clitoral hypertrophy Incoordination Gastrointestinal stroma tumor Neoplasm of the central nervous system Sarcoma Lisch nodules Ectopic pancreatic tissue Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Back pain Glioma Absent speech Basal ganglia calcification Arthritis Narrow chest Bilateral choanal atresia Microretrognathia Urethral stricture Broad clavicles Finger clinodactyly Amblyopia Depressed nasal ridge Intellectual disability, profound Abnormal aortic arch morphology Wide intermamillary distance Gliosis Renal cyst Single transverse palmar crease Severe global developmental delay Tented upper lip vermilion Corneal opacity Abnormality of the eye Abnormality of the nervous system Thin upper lip vermilion Coarse facial features Cerebral cortical atrophy Myoclonus Areflexia Edema Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Abnormality of the genitourinary system Pterygium Vascular ring Abnormality of finger Gastroparesis Meckel diverticulum Shortening of all distal phalanges of the fingers Arrhinencephaly Abnormal aortic morphology Absent nipple Ureteral duplication Cystic renal dysplasia Prominent fingertip pads Ovarian cyst Abnormality of the helix Broad ribs Asplenia Retinal dysplasia Proximal placement of thumb Bilateral cleft lip and palate Abnormality of the diaphragm Bilateral cleft lip Thickened nuchal skin fold Broad neck Shawl scrotum Atrophy/Degeneration affecting the brainstem Hypoplastic nipples Thin ribs Hypoplasia of the uterus Thoracic hypoplasia Anonychia Large for gestational age Rocker bottom foot Congenital conductive hearing impairment Central nervous system degeneration Aggressive behavior Arnold-Chiari malformation Autoimmune hemolytic anemia Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Obsessive-compulsive behavior Apathy Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Nasal speech Holoprosencephaly Submucous cleft hard palate Purpura Hypocalcemia Open mouth Primary amenorrhea Psychosis Peripheral demyelination Amenorrhea Chorea Hemolytic anemia Bulbous nose Dysmetria Congenital cataract Autoimmunity Mental deterioration Axonal loss Autoimmune thrombocytopenia Arteria lusoria Hypoplasia of olfactory tract Aplasia of the thymus Psychotic episodes Conotruncal defect Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Facial hirsutism Graves disease Anal stenosis Visual impairment Aplasia of the uterus Seborrheic dermatitis Postaxial oligodactyly Absent left hemidiaphragm Juvenile rheumatoid arthritis Abnormality of the endocrine system Echolalia Myelomeningocele Delusions Hearing abnormality Hypoparathyroidism Vitiligo Bipolar affective disorder Peripheral neuropathy Accessory spleen Neoplasm Scleral staphyloma Tachycardia Respiratory tract infection Pneumonia Dysphagia Anterior basal encephalocele Midline facial cleft Pectoral muscle hypoplasia/aplasia Frontal cutaneous lipoma Lipoma of corpus callosum Cranium bifidum occultum Morning glory anomaly Widely-spaced maxillary central incisors Abnormality of the ribs Hypoplastic frontal sinuses Absent tibia Median cleft palate Parietal foramina Broad columella Agenesis of cerebellar vermis Broad philtrum Alopecia totalis Bifid nasal tip Conical tooth Widow's peak Short columella Ambiguous genitalia Recurrent urinary tract infections Multiple lipomas Aplasia/Hypoplasia of the lungs Abnormality of the nasopharynx Abnormal sacrum morphology Supernumerary ribs Tethered cord Cavernous hemangioma Ureteropelvic junction obstruction Abnormality of female internal genitalia Abnormality of the pancreas Atelectasis Rectovaginal fistula Tracheal stenosis Anencephaly Abnormal vertebral morphology Wheezing Abnormality of the sternum Vertebral segmentation defect Right bundle branch block Bundle branch block Ectopic kidney Dextrocardia Preaxial hand polydactyly Tracheoesophageal fistula Laryngomalacia Tachypnea Situs inversus totalis Lipoma Adrenal insufficiency Vertebral clefting Meningitis Pulmonary artery stenosis Central hypotonia Aplasia cutis congenita Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Cortical dysplasia Supernumerary nipple Cutis marmorata Portal hypertension Abnormality of the metacarpal bones Leukopenia Telangiectasia Abnormality of the upper limb Pachygyria Pulmonary arterial hypertension Nail dysplasia Esotropia Ascites Cirrhosis EEG abnormality Constrictive median neuropathy Relative macrocephaly Hip dysplasia Arthrogryposis multiplex congenita Spasticity Arteriovenous malformation Esophageal varix Diabetes insipidus Nystagmus Easy fatigability Scrotal hypoplasia Lymphedema Long eyelashes Fine hair Oligohydramnios Decreased testicular size Broad nasal tip Wide nose Hypotrichosis Micropenis Upslanted palpebral fissure Aplasia cutis congenita on trunk or limbs Congenital hepatic fibrosis Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Abnormal pulmonary valve morphology Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Periventricular leukomalacia Porencephalic cyst Laryngeal stenosis Lower limb undergrowth Primum atrial septal defect Short distal phalanx of the thumb Iris coloboma Neurological speech impairment Feeding difficulties in infancy High forehead Prominent forehead Recurrent respiratory infections Short nose Kyphosis Hypoplasia of first ribs Sparse lower eyelashes Lower eyelid coloboma Laryngeal hypoplasia Decreased antibody level in blood Hypoplasia of the epiglottis Foot oligodactyly Mandibulofacial dysostosis Abnormality of the cervical spine Abnormal nasal morphology Phocomelia Trismus Hypoplasia of the zygomatic bone Aplasia/Hypoplasia of the thumb Absent thumb Limited elbow extension Aplasia/Hypoplasia of the eyebrow High, narrow palate Cerebellar vermis hypoplasia Hallux valgus Enlarged cisterna magna Cerebellar malformation Humoral immunodeficiency Facial hemangioma Contractures of the large joints Posterior fossa cyst Abnormality of the fontanelles or cranial sutures Abnormal tricuspid valve morphology Lethal skeletal dysplasia Abnormal mitral valve morphology Mitral stenosis Communicating hydrocephalus Adrenal hypoplasia Horseshoe kidney Narrow nasal bridge Atrioventricular canal defect Abnormality of the hip bone Congenital glaucoma Mesomelia Prominent occiput Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Hand polydactyly Narrow palate Wormian bones Broad hallux Spastic diplegia Abnormality of the intervertebral disk Coxa valga Mixed hearing impairment External genital hypoplasia Metatarsus adductus Mild short stature Preauricular pit Genu varum Delayed gross motor development Sacral dimple Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Spina bifida occulta Broad thumb Underdeveloped supraorbital ridges Microcornea Cerebral atrophy Abnormality of the dentition Sensorineural hearing impairment Patent urachus Asymmetric crying face Abnormal tracheobronchial morphology Potter facies Abnormality of the gallbladder Absence of the sacrum Anorectal anomaly Abnormality of the urethra Agenesis of permanent teeth Foot polydactyly Overlapping toe Aplasia/Hypoplasia of the middle phalanges of the toes Urticaria Atresia of the external auditory canal Atrioventricular block Abnormal palate morphology Short toe Dental malocclusion Microtia Joint stiffness Duplication of the proximal phalanx of the hallux Lateral displacement of patellae Pseudoepiphyses of the proximal phalanges of the hand Complete duplication of proximal phalanx of the thumb Multiple suture craniosynostosis Turricephaly Large foramen magnum Craniofacial asymmetry Cranial asymmetry Aplasia/Hypoplasia of the middle phalanges of the hand Shallow acetabular fossae Abdominal wall defect Persistence of primary teeth Lambdoidal craniosynostosis Oxycephaly Sagittal craniosynostosis Cloverleaf skull Flared iliac wings Hypoplasia of the optic tract


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