Hypertelorism, and Primary amenorrhea

Diseases related with Hypertelorism and Primary amenorrhea

In the following list you will find some of the most common rare diseases related to Hypertelorism and Primary amenorrhea that can help you solving undiagnosed cases.

Top matches:

Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

OCULOTRICHOANAL SYNDROME Is also known as mota syndrome|marles syndrome|manitoba oculotrichoanal syndrome|marles-greenberg-persaud syndrome

Related symptoms:

  • Hypertelorism
  • High palate
  • Wide nasal bridge
  • Microphthalmia
  • Narrow mouth


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OCULOTRICHOANAL SYNDROME

NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Other less relevant matches:

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

High match CROUZON DISEASE

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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

High match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Primary amenorrhea

Symptoms // Phenotype % cases
Amenorrhea Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Primary amenorrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Abnormal facial shape Delayed puberty Micropenis Cryptorchidism Cleft palate High palate Dental malocclusion Hypogonadism Epicanthus Global developmental delay Posteriorly rotated ears High forehead Hydrocephalus Sensorineural hearing impairment Ptosis Renal agenesis Ventricular septal defect Atrial septal defect Iris coloboma Proptosis Azoospermia Hypogonadotrophic hypogonadism Fever Cognitive impairment Decreased serum testosterone level Hypothyroidism Abnormality of the kidney Frontal bossing Downslanted palpebral fissures Strabismus Intellectual disability, mild Short neck Abnormality of cardiovascular system morphology Hypotrichosis Decreased testicular size Wide intermamillary distance Depressed nasal bridge Growth delay Microcephaly Wide nasal bridge Cataract Edema Midface retrusion Hernia Clinodactyly Hypoplasia of the maxilla Neoplasm Arnold-Chiari malformation Cleft lip Camptodactyly Amblyopia Micrognathia Patent ductus arteriosus Abnormal heart morphology Microphthalmia

Rare Symptoms - Less than 30% cases

Hypospadias Diabetes mellitus Choanal atresia Limb-girdle muscular dystrophy Visual impairment Alopecia Inguinal hernia Muscular dystrophy Plagiocephaly Sparse hair Headache Hyperreflexia Gonadal dysgenesis Generalized hypotonia Postnatal growth retardation Leukocytosis Leukemia Generalized tonic-clonic seizures Abnormal cardiac septum morphology Hyperpigmentation of the skin Low-set, posteriorly rotated ears Myelodysplasia Sleep apnea Anteverted nares Splenomegaly Craniosynostosis Conductive hearing impairment Polyneuropathy Brachydactyly Cerebellar hypoplasia Nystagmus Scoliosis Delayed speech and language development Ventriculomegaly Brachycephaly Immunodeficiency Triangular face Psoriasiform dermatitis Vaginal atresia Thrombocytopenia Bicuspid aortic valve Flexion contracture Autoimmune thrombocytopenia Abnormality of the dentition Oligohydramnios Hypoplasia of the uterus Delayed skeletal maturation Retrognathia Gynecomastia Renal dysplasia Anophthalmia Purpura Corneal opacity Narrow mouth Bilateral sensorineural hearing impairment High, narrow palate Abnormal sacrum morphology Coloboma Short philtrum Broad nasal tip Coarctation of aorta Low posterior hairline Unilateral renal agenesis Hypergonadotropic hypogonadism Anemia Polyhydramnios Gastroesophageal reflux Kyphoscoliosis Pectus excavatum Abdominal pain Rod-cone dystrophy Constipation Rheumatoid arthritis Dilatation Hypertrophic cardiomyopathy Abnormal bleeding Cholelithiasis Spina bifida Short palpebral fissure Broad thumb Left ventricular hypertrophy Exotropia Clumsiness Ventricular hypertrophy Webbed neck Nasal speech Hypocalcemia Abdominal distention Bruising susceptibility Facial asymmetry Pulmonic stenosis Broad forehead Schizophrenia Acne Autoimmune hemolytic anemia Congestive heart failure Arteria lusoria Decreased circulating parathyroid hormone level Sacral meningocele Graves disease Accommodative esotropia Interrupted aortic arch Esophoria Perimembranous ventricular septal defect Right aortic arch with mirror image branching Femoral hernia Parathyroid hypoplasia Alcoholism Right aortic arch Impaired T cell function Perisylvian polymicrogyria Duodenal stenosis Retinal vascular tortuosity Abnormality of the middle ear Abnormality of the thymus Vascular tortuosity Aplasia of the uterus Parathyroid agenesis Vomiting Meningocele Cardiomyopathy Inflammation of the large intestine Myopia Conotruncal defect Posterior embryotoxon Bipolar affective disorder Vitiligo Hypoparathyroidism Sclerocornea Type I truncus arteriosus Truncus arteriosus Myelomeningocele Tetany Juvenile rheumatoid arthritis Seborrheic dermatitis Anterior segment developmental abnormality Feeding difficulties Hypoplasia of the thymus Pain Aplasia of the thymus Lymphangioma Lymphedema Elbow flexion contracture Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Hyperglycemia Stridor Lipodystrophy Osteolysis Type I diabetes mellitus Aspiration Severe sensorineural hearing impairment Gingival overgrowth Telangiectasia Bronchiectasis Hypertrichosis Hypertriglyceridemia Blue sclerae Epistaxis Epidermal acanthosis Cardiomegaly Mitral valve prolapse Overgrowth Growth hormone deficiency Episodic fever Exocrine pancreatic insufficiency Recurrent fractures Hyperplasia of the maxilla Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Broad finger Enlarged kidney Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Full cheeks Flat face Poor suck Abnormality of blood and blood-forming tissues Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Neuroblastoma Hypoplastic aortic arch Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Specific learning disability Amegakaryocytic thrombocytopenia Cleft upper lip Pneumonia Ichthyosis Lymphadenopathy Abnormality of the foot Malabsorption Pectus carinatum Retinopathy Apnea Hepatosplenomegaly Pes planus Dyspnea Hyperkeratosis Severe short stature Hepatomegaly Superior pectus carinatum Failure to thrive Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Tetralogy of Fallot Prominent nose Chorea Scrotal hypoplasia Diastema Hypoplasia of teeth Lacrimation abnormality Hyposmia Hypoplastic labia majora Agenesis of permanent teeth Preauricular pit Reduced number of teeth Anosmia Encephalocele Abnormality of the sense of smell Synophrys Fetal polyuria Bilateral renal dysplasia Sirenomelia Urethral obstruction Potter facies Urogenital fistula Nonketotic hypoglycemia Bilateral renal hypoplasia Bilateral renal agenesis Lacrimal duct stenosis Aplasia/Hypoplasia involving the nose Bicornuate uterus Acanthosis nigricans Shallow orbits Scaphocephaly Syringomyelia Keratitis Melanocytic nevus Trigonocephaly Atresia of the external auditory canal Hypopigmented skin patches Increased intracranial pressure Torticollis Conjunctivitis Frontal encephalocele Narrow palate Dental crowding Convex nasal ridge Mandibular prognathia Prominent forehead Respiratory distress Respiratory insufficiency Optic atrophy Absent paranasal sinuses Aplasia of the nose Abnormality of female internal genitalia Breech presentation Turricephaly Upper eyelid coloboma Sparse body hair Impotence Congenital sensorineural hearing impairment Abnormality of the voice Anxiety Osteopenia Osteoporosis Depressivity Ablepharon Cryptophthalmos Nasolacrimal duct obstruction Generalized joint laxity Broad columella Bifid nasal tip Abnormal hair pattern Eyelid coloboma Anal stenosis Anteriorly placed anus Abnormality of the hair Omphalocele Ectodermal dysplasia Thin upper lip vermilion Secondary amenorrhea Male hypogonadism Non-midline cleft lip Proteinuria Tracheoesophageal fistula Polycystic kidney dysplasia Abnormality of the genitourinary system Abnormal intestine morphology Multicystic kidney dysplasia Depressed nasal ridge Renal hypoplasia Pulmonary hypoplasia Falls Talipes Talipes equinovarus Absence of secondary sex characteristics Hypertension Increased female libido Abnormality of body height Absence of pubertal development Non-obstructive azoospermia Hypoplasia of the ovary Female hypogonadism Eunuchoid habitus Decreased testosterone in males Breast hypoplasia Papilledema Abnormality of the skull Bifid uvula Choreoathetosis Decreased serum estradiol Anodontia Heart block Insulin-resistant diabetes mellitus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Premature ovarian insufficiency Hyperlipidemia Hallucinations Sparse scalp hair Abnormal spermatogenesis Myocardial infarction Fine hair Psychosis Abnormality of extrapyramidal motor function Dehydration Sensory neuropathy Abnormality of movement Arthrogryposis multiplex congenita Prominent nasal bridge Protruding ear Abnormal T-wave Increased thyroid-stimulating hormone level Babinski sign Arthritis Hemolytic anemia Polymicrogyria Bulbous nose Astigmatism Microtia Attention deficit hyperactivity disorder Autoimmunity Blepharophimosis Abnormality of the pinna Telecanthus Hydronephrosis Streak ovary Umbilical hernia Obesity Recurrent infections Behavioral abnormality Hypertonia Hypoplasia of the corpus callosum Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Mental deterioration Abnormality of metabolism/homeostasis Coronal craniosynostosis Narrow internal auditory canal Severe global developmental delay Small for gestational age Feeding difficulties in infancy Upslanted palpebral fissure Agenesis of corpus callosum Malar flattening Long philtrum Short nose Intrauterine growth retardation Cartilaginous trachea Multiple suture craniosynostosis Renal cyst Dysgerminoma Abnormality of the nasopharynx Short upper lip Abnormality of the cervical spine Craniofacial dysostosis Lambdoidal craniosynostosis Sagittal craniosynostosis Cloverleaf skull Gonadoblastoma Choanal stenosis Wide nose Generalized myoclonic seizures Dystonia Short sternum Diarrhea Gait disturbance Dysarthria Peripheral neuropathy Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Triangular mouth Rhabdomyosarcoma Mild microcephaly Dandy-Walker malformation Acute leukemia Multiple renal cysts Severe intrauterine growth retardation Acute lymphoblastic leukemia Combined immunodeficiency Bifid scrotum Nephroblastoma Sarcoma Intellectual disability, profound Ambiguous genitalia Seborrheic keratosis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Renal insufficiency, related diseases and genetic alterations Dysarthria and Abnormal heart morphology, related diseases and genetic alterations Low-set ears and Small hand, related diseases and genetic alterations Strabismus and Ventriculomegaly, related diseases and genetic alterations Nystagmus and Coloboma, related diseases and genetic alterations