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.


Top matches:

Medium match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY


ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as adrenal hyperplasia v|17-alpha-hydroxylase deficiency

Related symptoms:

  • Muscle weakness
  • Cryptorchidism
  • Hypertension
  • Myopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

Medium match JUVENILE POLYPOSIS SYNDROME; JPS


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

Medium match PAPILLOMA OF CHOROID PLEXUS; CPP


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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Other less relevant matches:

Medium match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


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

Medium match NORRIE DISEASE


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

Medium match SAETHRE-CHOTZEN SYNDROME


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

Medium match EHLERS-DANLOS SYNDROME, VASCULAR TYPE


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

Medium match FLOATING-HARBOR SYNDROME


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

Medium match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Medium match FANCONI ANEMIA


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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Spinal muscular atrophy, related diseases and genetic alterations Hyperreflexia and Acidosis, related diseases and genetic alterations Brachydactyly and Stereotypy, related diseases and genetic alterations Epicanthus and Clinodactyly, related diseases and genetic alterations

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