Frontal bossing, and Pes cavus

Diseases related with Frontal bossing and Pes cavus

In the following list you will find some of the most common rare diseases related to Frontal bossing and Pes cavus that can help you solving undiagnosed cases.


Top matches:

High match PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

High match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

High match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

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Other less relevant matches:

High match MARFAN SYNDROME TYPE 1


MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

High match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

High match PETERS PLUS SYNDROME


Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

PETERS PLUS SYNDROME Is also known as peters anomaly with short-limb dwarfism|krause-kivlin syndrome|krause-van schooneveld-kivlin syndrome|peters anomaly with short limb dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PETERS PLUS SYNDROME

High match 1P36 DELETION 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

High match HURLER SYNDROME


Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

High 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

Top 5 symptoms//phenotypes associated to Frontal bossing and Pes cavus

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Frontal bossing and Pes cavus. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Brachydactyly

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Prominent forehead Hydrocephalus Delayed speech and language development Failure to thrive Depressed nasal bridge Myopia Inguinal hernia Decreased body weight Abnormality of the skeletal system Generalized hypotonia Kyphoscoliosis Microcephaly Low-set ears Cognitive impairment Proptosis Epicanthus Hypothyroidism Sleep disturbance Behavioral abnormality Pectus excavatum Clinodactyly Constipation Abnormal facial shape Cleft palate Atrial septal defect Seizures Hearing impairment Cryptorchidism Feeding difficulties Ventriculomegaly Cerebral cortical atrophy Long philtrum Brachycephaly Conductive hearing impairment Macrocephaly Strabismus Ventricular septal defect Edema Abnormality of the dentition Kyphosis Umbilical hernia Cataract Posteriorly rotated ears Abnormality of cardiovascular system morphology Gingival overgrowth Abnormal heart morphology Clinodactyly of the 5th finger Midface retrusion Upslanted palpebral fissure Short nose High palate Polyhydramnios Dysphagia Downslanted palpebral fissures Gastroesophageal reflux Synophrys Macroglossia Hydronephrosis Hernia Camptodactyly Malar flattening Hip dysplasia Cerebral atrophy Joint laxity Craniosynostosis Abnormal cardiac septum morphology Pectus carinatum Hoarse voice Abnormality of the skin Cardiomyopathy Muscular hypotonia Short foot Sensorineural hearing impairment Joint hypermobility Osteoporosis Wide nasal bridge Full cheeks Motor delay Wide anterior fontanel Delayed eruption of teeth Wide mouth Feeding difficulties in infancy Nystagmus Flexion contracture Hypertrichosis Interphalangeal joint contracture of finger Pes planus Corneal opacity Sacral dimple Osteopenia Coarse facial features Low-set, posteriorly rotated ears

Rare Symptoms - Less than 30% cases


Hypercholesterolemia Aortic aneurysm Arnold-Chiari malformation Bicuspid aortic valve Myopathy Limited elbow movement Bilobate gallbladder Heart murmur Absent speech Polydactyly Biliary tract abnormality Large face Narrow palate Mitral valve prolapse Glaucoma Patent ductus arteriosus Pain Hypospadias Talipes equinovarus Optic atrophy Syndactyly Dilatation Visual impairment Ptosis Exotropia Joint stiffness Agenesis of corpus callosum Dolichocephaly Severe short stature Bifid uvula Abnormality of the pinna Hypogonadism Delayed skeletal maturation Postnatal growth retardation Hypoplasia of the corpus callosum Intrauterine growth retardation Microcornea Cleft lip Abnormality of the kidney Obstructive sleep apnea Microtia Dry skin Oral cleft Short palm Single transverse palmar crease Self-injurious behavior Aggressive behavior Poor suck Abnormality of the cardiovascular system Decreased fetal movement Large earlobe Aplasia/Hypoplasia of the corpus callosum Pachygyria Heterotopia Hypoplasia of dental enamel Stereotypy Intellectual disability, moderate Camptodactyly of finger Broad femoral neck Thick upper lip vermilion Abnormal vertebral morphology Pulmonic stenosis Recurrent ear infections Cavum septum pellucidum Obesity Cleft upper lip Communicating hydrocephalus Deep palmar crease Hypoplasia of teeth Brain atrophy Deeply set eye Webbed neck Self-mutilation Mandibular prognathia Overweight Protruding tongue Abnormal mitral valve morphology Abnormality of the immune system Diastasis recti EEG abnormality Eczema Gait disturbance Skeletal dysplasia Metatarsus adductus Neuroblastoma Muscle weakness Abnormal heart valve morphology Dysarthria Skeletal muscle atrophy Intellectual disability, mild Anxiety Spinal canal stenosis Failure to thrive in infancy Genu valgum Pyloric stenosis Infantile muscular hypotonia Recurrent otitis media Wide nose Thick vermilion border Arrhythmia Arnold-Chiari type I malformation High, narrow palate Ankle contracture Hirsutism Small hand Split hand Thickened skin Hypermelanotic macule Abnormality of the thyroid gland Arthropathy Redundant neck skin Respiratory insufficiency Delayed closure of the anterior fontanelle Abnormality of the testis Protrusio acetabuli C1-C2 subluxation Hypertension Hepatomegaly Short neck Overgrowth Apnea Abnormality of brain morphology Abnormal hand morphology Spastic paraparesis Abnormality of the ribs Drooling Hypermetropia Mitral regurgitation Abnormality of dental enamel Generalized hirsutism Pointed chin Long eyelashes Foam cells Abnormality of epiphysis morphology Cor pulmonale Elbow flexion contracture Pulmonary edema Abnormal parietal bone morphology Flared iliac wings Hyperplastic labia majora Abnormality of the cerebral ventricles Abnormality of the renal pelvis Everted lower lip vermilion Solitary renal cyst Conical tooth Seborrheic dermatitis Hypoplastic ilia Agenesis of the anterior commissure Upper airway obstruction Chronic diarrhea Left ventricular hypertrophy Encephalocele Abnormal form of the vertebral bodies Progressive neurologic deterioration Vomiting Beaking of vertebral bodies Diarrhea Congestive heart failure Angina pectoris Constrictive median neuropathy Aplasia/Hypoplasia involving bones of the feet Hypoplastic female external genitalia Hypoplastic labia minora Horizontal eyebrow Abnormal external genitalia Talipes valgus Abnormal social behavior Cranial nerve VI palsy Aortic regurgitation Delayed ossification of carpal bones Noncompaction cardiomyopathy Asymmetry of the ears Oppositional defiant disorder Cerebral palsy Abnormality of the hairline Rhinorrhea Progressive hearing impairment Bifid ribs Abnormality of peripheral nerve conduction Myelopathy Sagittal craniosynostosis Ebstein anomaly of the tricuspid valve Coxa valga Abnormality of the femoral neck Widened subarachnoid space Abnormal aortic valve morphology Widely spaced teeth Congenital talipes calcaneovalgus Tracheal stenosis Endocardial fibroelastosis Myocardial infarction Intellectual disability, profound Splenomegaly Rhinitis Carious teeth Increased intracranial pressure Limitation of joint mobility Abnormality of eye movement Palpebral edema Retinal degeneration Abnormality of skin pigmentation Hypoplasia of the odontoid process Asthma Thick eyebrow Short clavicles Broad nasal tip Thoracic scoliosis Thickened calvaria Severe global developmental delay Restrictive ventilatory defect Coronary artery atherosclerosis Flared metaphysis Multiple joint contractures Toe walking Inability to walk Stridor Language impairment Hemiplegia Back pain Neurodegeneration Prominent supraorbital ridges Recurrent upper respiratory tract infections Protuberant abdomen Stroke Headache Dyspnea Depressivity Abnormality of the respiratory system Dysostosis multiplex Visual loss Gingivitis Lumbar hyperlordosis Abnormality of the clavicle Pneumonia Recurrent respiratory infections Abnormality of the skull Corneal dystrophy Recurrent lower respiratory tract infections Abdominal pain Hepatosplenomegaly Peripheral visual field loss Cardiomegaly Abnormality of the elbow Elevated hepatic transaminase Coxa vara Microdontia Sleep apnea Mental deterioration Pallor Retinopathy Shallow orbits Abnormal pyramidal sign Hyperammonemia Progressive visual loss Nyctalopia Opacification of the corneal stroma Abnormality of the tonsils Diaphyseal thickening Microscopic hematuria Ulnar deviation of finger Generalized hyperpigmentation Tracheomalacia Central hypotonia Syringomyelia Neonatal hypoglycemia Soft skin Severe postnatal growth retardation Thickened nuchal skin fold Curly hair Fragile nails Megalencephaly Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Barrel-shaped chest Myofiber disarray Enlarged cerebellum Progeroid facial appearance Rhabdomyolysis Keratoconus Loose anagen hair Laryngomalacia Cafe-au-lait spot Abnormality of the hair Short chin Abnormality of the fingernails Acanthosis nigricans Cutis laxa Abnormal dermatoglyphics Hemangioma Relative macrocephaly Hyperextensible skin Reduced subcutaneous adipose tissue Redundant skin Pleural effusion Hyperglycemia Bilateral cryptorchidism Hypoplastic toenails Tricuspid regurgitation Rocker bottom foot Large for gestational age Neurodevelopmental delay Macrocephaly at birth Cardiomyocyte hypertrophy Lymphedema Body odor Hematemesis Melena Triangular mouth Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Duodenal ulcer Ulnar deviation of the wrist Postprandial hyperglycemia Thin nail Embryonal rhabdomyosarcoma Shyness Hypopnea Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Ganglioneuroblastoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Deep plantar creases Papilloma Bladder carcinoma Labial hypoplasia Woolly hair Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Achilles tendon contracture Large forehead Verrucae Central apnea Lack of skin elasticity Asymmetric septal hypertrophy Bronchomalacia Broad philtrum Fasting hypoglycemia Concave nail Pneumothorax Hyperextensibility of the finger joints Rhabdomyosarcoma Schwannoma Abnormality of earlobe Fetal distress Hydrops fetalis Hyperpigmentation of the skin Abnormal diaphysis morphology Abnormality of the pubic bone Hernia of the abdominal wall Urinary glycosaminoglycan excretion Short mandibular rami Cervical kyphosis Abnormal CNS myelination Lumbar kyphosis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Hypoplasia of the femoral head Calvarial hyperostosis Calcification of falx cerebri Enlarged tonsils Hypoplastic cervical vertebrae Cervical subluxation Mandibular condyle hypoplasia Abnormality of lysosomal metabolism Flaring of rib cage Broad ischia Abnormality of joint mobility Thoracolumbar kyphoscoliosis Cervical myelopathy Delayed tarsal ossification Narrow pelvis bone Retinal fold Chronic rhinitis Biconcave vertebral bodies Mucopolysacchariduria Sclerosis of skull base Difficulty standing Abnormal nerve conduction velocity Anterior open bite Meckel diverticulum Flared nostrils Abnormality of the middle ear ossicles Large sella turcica Anterior rib cupping Prominent sternum J-shaped sella turcica Abnormality of the gingiva Atlantoaxial dislocation Hip subluxation Heparan sulfate excretion in urine Enlargement of the wrists Annular pancreas Thick skull base Atrial fibrillation Tetraplegia Sparse hair Arthrogryposis multiplex congenita Delayed puberty Joint hyperflexibility Astigmatism Tachycardia Hematuria Postural instability Ascites Sepsis Hypertrophic cardiomyopathy Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Nevus Premature birth Growth hormone deficiency Apraxia Epidermal acanthosis Thick lower lip vermilion Irritability Abnormality of the nervous system Deformed humerus Stiff interphalangeal joints Enlarged vertebral pedicles Proximal tapering of metacarpals Bullet-shaped phalanges of the hand Broad long bone diaphyses Systolic heart murmur Abnormality of the wing of the ilium Increased size of nasopharyngeal adenoids Abnormality of glycosaminoglycan metabolism Abnormality of the tympanic membrane Abnormal mandible coronoid process morphology Carcinoma Abnormality of premolar morphology Abnormal mandibular ramus morphology Delayed ossification of the hand bones Neoplasm Renal insufficiency Hyperhidrosis Respiratory failure Hyperkeratosis Hypoglycemia Muscle flaccidity Neonatal hypotonia Aortic arch aneurysm Joint contracture of the hand Broad forehead Arachnodactyly Postaxial polydactyly Recurrent fractures Chest pain Blue sclerae Dental crowding Ectopia lentis Hyperplasia of midface Myopathic facies Disproportionate tall stature Striae distensae Dilatation of the cerebral artery Aortic dissection High anterior hairline Spondylolisthesis Retrognathia Hyperextensible hand joints Ascending tubular aorta aneurysm Spastic dysarthria Ankle clonus Scleroderma Cerebellar vermis atrophy Premature loss of teeth Upper limb muscle weakness Dysuria Abnormality of the thumb Speech apraxia Morphea Upper limb spasticity Mood swings Overbite Abnormality of the nares Knee clonus Panic attack Narrow jaw Suicidal ideation Dermal translucency Thoracic aortic aneurysm Hammertoe Sinusitis Nephropathy Retinal detachment Esotropia Otitis media Hypertriglyceridemia Broad-based gait Omphalocele Increased body weight Paresthesia Lissencephaly Abnormality of the outer ear Abnormality of the urinary system Impulsivity Open bite Progressive spastic paraplegia Broad palm Impaired pain sensation Falls Lethargy Arterial tortuosity Bicuspid pulmonary valve Dural ectasia Mild myopia Ascending aortic dissection Absent distal phalanges Pulmonary artery aneurysm Descending thoracic aorta aneurysm Spontaneous pneumothorax Generalized arterial tortuosity Paralysis Ataxia Peripheral neuropathy Abnormality of metabolism/homeostasis Areflexia Hyporeflexia Hyperactivity High forehead Hyperlordosis Spastic diplegia Impaired vibratory sensation Chronic constipation Abnormality of the thorax Arthritis Bulbous nose Hypoplasia of the maxilla Subcutaneous nodule Knee flexion contracture Osteolysis Metaphyseal widening Abnormality of the ear Diabetes mellitus Narrow nasal bridge Hip contracture Ankylosis Antinuclear antibody positivity Vertebral compression fractures Generalized osteoporosis Wrist flexion contracture Generalized hypertrichosis Arthralgia Short 3rd metacarpal Broad metatarsal Acute lymphoblastic leukemia Thrombocytopenia Leukemia Generalized tonic-clonic seizures Neutropenia Foot dorsiflexor weakness Mild short stature Lower limb hyperreflexia Upper limb undergrowth Hyposegmentation of neutrophil nuclei Short 4th metacarpal Abnormality of chromosome segregation Short 5th metacarpal Ectopic calcification Lower limb hypertonia Giant platelets Median cleft palate Folate deficiency Camptodactyly of toe Contractures of the large joints Emotional lability Specific learning disability Paraplegia Lower limb muscle weakness Dysmetria Distal amyotrophy Abnormal cerebellum morphology Gliosis Prominent nose Psychosis Spastic paraplegia Choreoathetosis Lower limb spasticity Progressive muscle weakness Hallucinations Spastic gait Clonus Slurred speech Abnormality of the hand Abnormality of the foot Difficulty walking Finger swelling Widened metacarpal shaft Severe generalized osteoporosis Metacarpal osteolysis Metatarsal osteolysis Carpal osteolysis Thin metacarpal cortices Osteolysis involving tarsal bones Interphalangeal joint erosions Ankylosis of feet small joints Gait ataxia Peripheral opacification of the cornea Thin metatarsal cortices Distal tapering of metatarsals Sclerotic cranial sutures Spasticity Hyperreflexia Cerebellar atrophy Babinski sign Drowsiness Short attention span Expressive language delay Hand polydactyly Abnormal intestine morphology Cranial nerve paralysis Leukoencephalopathy Scrotal hypoplasia Delayed gross motor development Abnormality of vision Patent foramen ovale Clitoral hypertrophy Narrow palpebral fissure Congenital sensorineural hearing impairment Hemiplegia/hemiparesis Delayed cranial suture closure Dysphasia Polyphagia Macule High hypermetropia Spastic tetraparesis Short phalanx of finger Absent septum pellucidum Abnormal blistering of the skin Poor speech Polymicrogyria Hepatic steatosis Renal cyst Delayed myelination Intestinal malrotation Epileptic encephalopathy Tetralogy of Fallot Telangiectasia Hypoplasia of penis Optic disc pallor Coarctation of aorta Hypsarrhythmia Ventricular hypertrophy Tetraparesis Depressed nasal ridge Large fontanelles Infantile spasms Telangiectasia of the skin Dilated cardiomyopathy Abnormality of chromosome stability Left ventricular noncompaction Abnormality of the spleen Rib fusion Thickened helices Colpocephaly Abnormal renal physiology Abnormal left ventricle morphology Periventricular leukomalacia Delayed CNS myelination Abnormal corpus callosum morphology Impaired social interactions Lambdoidal craniosynostosis Abnormality of female external genitalia Abnormality of the mandible Gastric ulcer Abnormality of the anus Abnormality of the optic disc Volvulus Dilation of lateral ventricles Slender long bone Hiatus hernia Anteriorly placed anus Congenital hypothyroidism Submucous cleft hard palate Aortic root aneurysm Foot polydactyly Abnormal lung lobation Epileptic spasms Abnormal eyebrow morphology 11 pairs of ribs Coronal craniosynostosis Ocular albinism Short 5th finger Missing ribs Abnormality of the gastrointestinal tract Optic nerve coloboma Lower limb asymmetry Abnormality of the neck Abnormality of the cerebral white matter Small for gestational age Bruxism Iris coloboma Thin upper lip vermilion Protruding ear Toe syndactyly Anal atresia Smooth philtrum Micromelia Thin vermilion border Round face Sleep-wake inversion Short metacarpal Wide intermamillary distance Limb undergrowth Short palpebral fissure Rhizomelia Preauricular skin tag Short toe Multicystic kidney dysplasia Intellectual disability, severe Frequent temper tantrums Intellectual disability, progressive Recurrent aspiration pneumonia Duodenal atresia Broad face Abnormality of the larynx Abnormal renal morphology Everted upper lip vermilion Velopharyngeal insufficiency Excessive daytime sleepiness Mood changes Head-banging Hyperacusis Premature atrial contractions Pelvic kidney Abnormality of upper lip Morphological abnormality of the middle ear Abnormal tracheobronchial morphology Midline brain calcifications Abnormality of the forearm Hemivertebrae Spina bifida occulta Neurological speech impairment Anterior chamber synechiae Hypoplasia of the vagina Short lingual frenulum Conical incisor Aplasia/hypoplasia of the extremities Facial hypertrichosis Square pelvis bone Intestinal fistula Agenesis of maxillary lateral incisor Exaggerated cupid's bow Microtia, second degree Micropenis Narrow mouth Autism Abnormality of the eye Abnormality of the liver Blepharophimosis Coloboma Birth length less than 3rd percentile Mesomelic short stature Renal hypoplasia/aplasia Broad neck Disproportionate short-limb short stature Abnormality of pelvic girdle bone morphology Short metatarsal Proximal placement of thumb Preauricular pit Blurred vision Hypoplasia of the uterus Short columella Rieger anomaly Stenosis of the external auditory canal Hypoplastic labia majora Retinal coloboma Anterior hypopituitarism Peters anomaly Ureteral duplication Abnormality of the pulmonary artery Clitoral hypoplasia Increased corneal curvature



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