Cryptorchidism, and Headache
Diseases related with Cryptorchidism and Headache
In the following list you will find some of the most common rare diseases related to Cryptorchidism and Headache that can help you solving undiagnosed cases.
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Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.
JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract
Related symptoms:
- Seizures
- Neoplasm
- Failure to thrive
- Pain
- Cryptorchidism
SOURCES:
OMIM
MENDELIAN
More info about JUVENILE POLYPOSIS SYNDROME; JPS
Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).
PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma
Related symptoms:
- Intellectual disability
- Seizures
- Hypertelorism
- Neoplasm
- Abnormal facial shape
SOURCES:
OMIM
MENDELIAN
More info about PAPILLOMA OF CHOROID PLEXUS; CPP
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Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
MESH
ORPHANET
OMIM
MENDELIAN
More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.
NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Microcephaly
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about NORRIE DISEASE
Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.
SAETHRE-CHOTZEN SYNDROME Is also known as acs3|acrocephalosyndactyly type 3|scs|acrocephaly, skull asymmetry, and mild syndactyly|acs iii|acrocephalosyndactyly, type iii|chotzen syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about SAETHRE-CHOTZEN SYNDROME
Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.
EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr
Related symptoms:
- Global developmental delay
- Short stature
- Hypertelorism
- Pain
- Cryptorchidism
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE
Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about FLOATING-HARBOR SYNDROME
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
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about FANCONI ANEMIA
Top 5 symptoms//phenotypes associated to Cryptorchidism and Headache
Symptoms // Phenotype |
% cases |
Neoplasm |
Common - Between 50% and 80% cases
|
Seizures |
Common - Between 50% and 80% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Microcephaly |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Cryptorchidism and Headache. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Short stature
Uncommon Symptoms - Between 30% and 50% cases
Abnormal heart morphology
Abnormality of cardiovascular system morphology
Hypertension
Abnormal facial shape
Hearing impairment
Hypertelorism
Atrial septal defect
Congestive heart failure
Strabismus
Abnormality of the skeletal system
Umbilical hernia
Ptosis
Growth delay
Nystagmus
Low-set ears
Hypospadias
Sensorineural hearing impairment
Proptosis
Epicanthus
Myelodysplasia
Carcinoma
Vertigo
Sleep apnea
Telangiectasia
Dilatation
Deeply set eye
Migraine
Thin vermilion border
Protruding ear
Cognitive impairment
Scoliosis
Hyperreflexia
Hydrocephalus
Vomiting
Postnatal growth retardation
High palate
Thrombocytopenia
Micrognathia
Pain
Diabetes mellitus
Gastroesophageal reflux
Telecanthus
Optic atrophy
Amenorrhea
Posteriorly rotated ears
Clinodactyly of the 5th finger
Clinodactyly
Hypokalemia
Brachydactyly
Abnormal cardiac septum morphology
Facial asymmetry
Failure to thrive
Bruising susceptibility
Anemia
Dental malocclusion
Cataract
Rare Symptoms - Less than 30% cases
Pectus excavatum
Arthritis
Joint hyperflexibility
Abnormality of the skin
Neutropenia
Hip dislocation
Abnormality of skin pigmentation
Pancytopenia
Retinal degeneration
Abnormality of the dentition
Leukemia
Cardiac arrest
Abnormal bleeding
High, narrow palate
Short thumb
Inguinal hernia
Short palpebral fissure
Muscle weakness
Visual impairment
Broad forehead
Hypoplasia of the maxilla
Azoospermia
Hypertrophic cardiomyopathy
Flat face
Uterine rupture
Toe syndactyly
Finger syndactyly
Cleft palate
Broad thumb
Flexion contracture
Depressed nasal bridge
Prominent nasal bridge
Mandibular prognathia
Conductive hearing impairment
Intellectual disability, moderate
Craniosynostosis
Hypogonadism
Amblyopia
Malar flattening
Narrow nose
Microphthalmia
Glaucoma
Anxiety
Aggressive behavior
Abnormality of the eye
Irritability
Hypotelorism
External ear malformation
Patent ductus arteriosus
Narrow nasal bridge
Triphalangeal thumb
Trigonocephaly
Abnormality of blood and blood-forming tissues
Abnormal pupil morphology
Fever
Plagiocephaly
Short columella
Low posterior hairline
Low-set, posteriorly rotated ears
Stroke
Small for gestational age
Talipes equinovarus
Congenital adrenal hyperplasia
Feeding difficulties
Macrocephaly
Fatigue
Respiratory distress
Diarrhea
Hernia
Abdominal pain
Kyphoscoliosis
Midface retrusion
Hypothyroidism
Intrauterine growth retardation
Sprengel anomaly
Short neck
Intellectual disability, mild
Hematochezia
Visual loss
Hemoptysis
Upslanted palpebral fissure
Constipation
Adrenal hyperplasia
Adrenogenital syndrome
Clubbing
Cardiomyopathy
Micropenis
Triangular face
Coarctation of aorta
Increased intracranial pressure
Primary amenorrhea
Microdontia
Ataxia
Ventricular septal defect
Failure to thrive in infancy
Abnormality of the urinary system
Secondary amenorrhea
Feeding difficulties in infancy
Hydronephrosis
High forehead
Pulmonary artery aneurysm
Enlarged naris
Broad fingertip
Delayed skeletal maturation
Peripheral arteriovenous fistula
Curved fingers
Congenital posterior urethral valve
Normal pressure hydrocephalus
Abnormal soft palate morphology
Gait disturbance
Generalized cerebral atrophy/hypoplasia
Mesocardia
Congenital pseudoarthrosis of the clavicle
Epididymal cyst
Arterial rupture
Gingival recession
Molluscoid pseudotumors
Foot acroosteolysis
Arteriovenous fistulas of celiac and mesenteric vessels
Hypoplastic lacrimal duct
Cystocele
Premature delivery because of cervical insufficiency or membrane fragility
Spontaneous pneumothorax
Hemothorax
Hypermobility of distal interphalangeal joints
Pseudoarthrosis
Coronary artery aneurysm
Myopia
Polyhydramnios
Sparse hair
Rod-cone dystrophy
Delayed speech and language development
Splenomegaly
Edema
Uterine prolapse
Dysarthria
Wide nasal bridge
Downslanted palpebral fissures
Interphalangeal joint contracture of finger
Persistent left superior vena cava
Malabsorption
Short philtrum
Neurological speech impairment
Abnormality of the voice
Nasal speech
Abnormality of the hand
Abnormality of the fingernails
Nephrocalcinosis
Finger clinodactyly
Generalized hirsutism
Hypermetropia
Long eyelashes
Poor speech
Impulsivity
Recurrent otitis media
Smooth philtrum
Bulbous nose
Hirsutism
Downturned corners of mouth
Small hand
Broad nasal tip
Prominent nose
Underdeveloped nasal alae
Otitis media
Hypoplasia of penis
Apraxia
Language impairment
Preauricular pit
Babinski sign
Hyperactivity
Varicocele
Expressive language delay
Short upper lip
Spinal dysraphism
Stiff neck
Broad columella
Hyperextensibility of the finger joints
Speech apraxia
Enlarged joints
11 pairs of ribs
Villous atrophy
Enuresis
High pitched voice
Short attention span
Thin upper lip vermilion
Joint laxity
Abnormality of the clavicle
Cone-shaped epiphyses of the phalanges of the hand
Lipoma
Short clavicles
Joint stiffness
Proportionate short stature
Celiac disease
Wide mouth
Camptodactyly of finger
Tethered cord
Shield chest
Hypotrichosis
Irregular hyperpigmentation
Absent thumb
Myeloid leukemia
Multiple cafe-au-lait spots
Acute myeloid leukemia
Absent radius
Aplasia/Hypoplasia of the radius
Hearing abnormality
Ectopic kidney
Chromosome breakage
Abnormal eyelid morphology
Abnormality of the ulna
Arteriovenous malformation
B-cell lymphoma
Abnormality of the upper limb
Hydroureter
Squamous cell carcinoma
Abnormality of the uterus
Leukopenia
Abnormal vertebral morphology
Spina bifida
Hypergonadotropic hypogonadism
Bone marrow hypocellularity
Horseshoe kidney
Type I diabetes mellitus
Cranial nerve paralysis
Hypoplasia of the ulna
Renal hypoplasia/aplasia
Hypopigmented skin patches
Reduced bone mineral density
Abnormality of vision
Hyperinsulinemia
Tracheoesophageal fistula
Glucose intolerance
Aplastic anemia
Abnormality of the testis
Cafe-au-lait spot
Almond-shaped palpebral fissure
Clubbing of toes
Decreased fertility in males
Chromosomal breakage induced by crosslinking agents
Hypoplastic anemia
Absent testis
Compensated hypothyroidism
Abnormal carotid artery morphology
Complete duplication of thumb phalanx
Prolonged G2 phase of cell cycle
Anemic pallor
Deficient excision of UV-induced pyrimidine dimers in DNA
Neoplasm of head and neck
Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of fingers
Pyridoxine-responsive sideroblastic anemia
Partial duplication of thumb phalanx
Aplasia/Hypoplasia of the iris
Abnormality of the thumb
Abnormal localization of kidney
Bicornuate uterus
Abnormality of femur morphology
Acute monocytic leukemia
Abnormality of the hypothalamus-pituitary axis
Abnormal aortic valve morphology
Abnormal renal morphology
Abnormality of chromosome stability
Low-grade fever
Reticulocytopenia
Abnormal aortic morphology
Abnormality of nervous system morphology
Primary hypothyroidism
Duodenal stenosis
Duplicated collecting system
Meckel diverticulum
Insulin resistance
Recurrent urinary tract infections
Pulmonic stenosis
Malignant hyperthermia
Cystic hygroma
Male infertility
Abnormality of the vertebral column
Neuroblastoma
Gonadal dysgenesis
Arnold-Chiari type I malformation
Drusen
Abnormality of color vision
Nonimmune hydrops fetalis
Atrial flutter
Restrictive cardiomyopathy
Absent earlobe
Synovitis
Schwannoma
Multiple lentigines
Neurofibromas
Leukocytosis
Optic disc hypoplasia
Lymphedema
Abdominal distention
Webbed neck
Wide intermamillary distance
Ventricular hypertrophy
Clumsiness
Left ventricular hypertrophy
Bicuspid aortic valve
Abnormality of the coagulation cascade
Arnold-Chiari malformation
Poor suck
Pterygium
Elevated alkaline phosphatase
Patent foramen ovale
Cubitus valgus
Radial deviation of finger
Asymmetry of the thorax
Lymphangioma
Aganglionic megacolon
Astigmatism
Pes planus
Abnormality of the kidney
Abnormality of the liver
Dolichocephaly
Abnormality of the foot
Anal atresia
Hypopigmentation of the skin
Severe short stature
Lymphoma
Renal agenesis
Tetralogy of Fallot
Sloping forehead
Oligohydramnios
Choanal atresia
Abnormality of the genital system
Weight loss
Renal insufficiency
Hypoplastic aortic arch
Loose anagen hair
Amegakaryocytic thrombocytopenia
Superior pectus carinatum
Reduced factor XII activity
Neurofibrosarcoma
Panuveitis
Juvenile myelomonocytic leukemia
Pectus excavatum of inferior sternum
Ventriculomegaly
Gonadal neoplasm
Reduced factor XIII activity
Nasogastric tube feeding
Preductal coarctation of the aorta
Postductal coarctation of the aorta
Hepatomegaly
Frontal bossing
Renovascular hypertension
Carious teeth
Arteriovenous fistula
Thiamine-responsive megaloblastic anemia
Developmental regression
Abnormality of the nervous system
EEG abnormality
Macrotia
Autism
Cerebral cortical atrophy
Myoclonus
Dementia
Behavioral abnormality
Hypertonia
Blindness
Intellectual disability, severe
Spasticity
Muscular hypotonia
Paroxysmal atrial tachycardia
Attention deficit hyperactivity disorder
Progressive peripheral neuropathy
Sideroblastic anemia
Abnormality of the basal ganglia
Abdominal situs inversus
Megaloblastic anemia
Macrocytic anemia
Hyperglycemia
Polycystic ovaries
Cone/cone-rod dystrophy
Aminoaciduria
Hoarse voice
Situs inversus totalis
Anorexia
Bilateral sensorineural hearing impairment
Retinopathy
Corneal opacity
Polyneuropathy
Abnormal retinal morphology
Remnants of the hyaloid vascular system
Retinal fold
Retinoblastoma
Venous insufficiency
Anterior synechiae of the anterior chamber
Abnormality of the retinal vasculature
Abnormality of the helix
Retinal dysplasia
Vitreoretinopathy
Sclerocornea
Abnormality of the vasculature
Hypoplasia of the iris
Severe vision loss
Abnormality of immune system physiology
Aplasia/Hypoplasia of the cerebellum
Delayed puberty
Self-injurious behavior
Ectopia lentis
Cachexia
Progressive hearing impairment
Intellectual disability, progressive
Opacification of the corneal stroma
Clonus
Hallucinations
Stereotypy
Psychosis
Intellectual disability, profound
Sleep disturbance
Retinal detachment
Confusion
Aciduria
Retinal dystrophy
Shallow anterior chamber
Hypokalemic alkalosis
Clubbing of fingers
Polycythemia
Hamartoma
Colon cancer
Portal hypertension
Hypoalbuminemia
Diplopia
Epistaxis
Cyanosis
Gastrointestinal hemorrhage
Chest pain
Cough
Jaundice
Dyspnea
Female pseudohermaphroditism
Rectal prolapse
Decreased circulating renin level
Perineal hypospadias
Metabolic alkalosis
Alkalosis
Hyperaldosteronism
Male pseudohermaphroditism
Increased circulating cortisol level
Bifid scrotum
Accelerated skeletal maturation
Gynecomastia
Ambiguous genitalia
Generalized muscle weakness
Abnormality of metabolism/homeostasis
Myopathy
Intestinal polyposis
Stomach cancer
Paresthesia
Hypertrichosis
Lethargy
Pallor
Hypoglycemia
Arrhythmia
Choroid plexus carcinoma
Choroid plexus papilloma
Papilloma
Osteosarcoma
Broad ribs
Choanal stenosis
Broad neck
Papilledema
Upper limb undergrowth
Loss of consciousness
Macroglossia
Hamartomatous polyposis
Delayed eruption of teeth
Nausea
Apnea
Respiratory failure
Pneumonia
Depressivity
Recurrent infections
Hepatic vascular malformations
Adenocarcinoma of the colon
Duodenal adenocarcinoma
Multiple gastric polyps
Intussusception
Melena
Hematemesis
Exudative vitreoretinopathy
Abnormal chorioretinal morphology
Cigarette-paper scars
Short chin
Scleroderma
Abnormal joint morphology
Fragile skin
Abnormal heart valve morphology
Telangiectasia of the skin
Macule
Aplasia/Hypoplasia of the eyebrow
Melanocytic nevus
Rheumatoid arthritis
Aortic aneurysm
Redundant skin
Tinnitus
Abnormal intestine morphology
Osteolysis
Joint dislocation
Prematurely aged appearance
Congenital hip dislocation
Gingival overgrowth
Subcutaneous nodule
Abnormality of the face
Thin skin
Osteoarthritis
Blue sclerae
Mitral valve prolapse
Premature birth
Joint hypermobility
Narrow mouth
Alopecia
Respiratory insufficiency
Cleft of chin
Keratoconus
Esophageal atresia
Partial duplication of the distal phalanx of the 2nd finger
Pneumothorax
Arterial dissection
Internal hemorrhage
Colonic diverticula
Abnormality of the gingiva
Abnormal oral frenulum morphology
Gastrointestinal infarctions
Dermal translucency
Ascending tubular aorta aneurysm
Excessive wrinkled skin
Abnormality of hair texture
Ocular pain
Arterial stenosis
Premature loss of primary teeth
Periorbital edema
Bladder diverticulum
Premature loss of teeth
Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the earlobes
Reduced consciousness/confusion
Osteolytic defects of the phalanges of the hand
Varicose veins
Abnormally large globe
Periodontitis
Aortic dissection
Gingivitis
Transient ischemic attack
Abnormal eyelash morphology
Subarachnoid hemorrhage
Dilatation of the cerebral artery
Alopecia of scalp
Absent first metatarsal
Partial duplication of the distal phalanx of the 3rd finger
Leukocoria
Hyperlordosis
Radioulnar synostosis
Abnormality of pelvic girdle bone morphology
Breast carcinoma
Abnormality of the genitourinary system
Cutaneous syndactyly
Narrow palate
Coxa valga
Elbow flexion contracture
Bilateral single transverse palmar creases
Low anterior hairline
Abnormal form of the vertebral bodies
Convex nasal ridge
Single transverse palmar crease
Microtia
Cleft lip
Open bite
Brachycephaly
Syndactyly
Vascular neoplasm
Anterior chamber synechiae
Neoplasm of the eye
Aplasia/Hypoplasia of the lens
Abnormal cochlea morphology
Retinopathy of prematurity
Abnormality of the diencephalon
Corneal degeneration
Abnormal vitreous humor morphology
Posterior synechiae of the anterior chamber
Phthisis bulbi
Erectile abnormalities
Epiphora
Hallux valgus
Renotubular dysgenesis
Lacrimal duct stenosis
Prominent crus of helix
Proximal radio-ulnar synostosis
Premature closure of fontanelles
Duplication of the distal phalanx of hand
Deviated nasal septum
Skull asymmetry
Narrow internal auditory canal
Mild hearing impairment
Craniofacial asymmetry
Flat forehead
Abnormal nasolacrimal system morphology
Parietal foramina
Neoplasm of the breast
Craniofacial dysostosis
Lambdoidal craniosynostosis
Broad hallux
Abnormality of the skull
Delayed cranial suture closure
Long nose
Vertebral fusion
Abnormality of digit
Shallow orbits
Bilateral cleft lip
Coronal craniosynostosis
Anterior plagiocephaly
Abnormality of the antihelix
Blepharospasm
Bilateral cleft lip and palate
Abnormal hair pattern
Buphthalmos
Oxycephaly
Abnormality of the preputium
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Epicanthus and Clinodactyly, related diseases and genetic alterations
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