Hypertelorism, and Azoospermia

Diseases related with Hypertelorism and Azoospermia

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

Top matches:

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

Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

Other less relevant matches:

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS 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

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

High 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

High match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

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

Medium match GAPO SYNDROME

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

GAPO SYNDROME Is also known as growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|odontotrichomelic syndrome|growth retardation, alopecia, pseudoanodontia, and optic atrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAPO SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Azoospermia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hypogonadism Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Microcephaly Micrognathia Seizures Atrial septal defect Patent ductus arteriosus Frontal bossing Low-set ears Ptosis Abnormal facial shape Cryptorchidism Hearing impairment Congestive heart failure Cataract Hypergonadotropic hypogonadism Long philtrum Abnormal cardiac septum morphology Amenorrhea Abnormal heart morphology High palate Hypotrichosis Anteverted nares Clinodactyly Diabetes mellitus High forehead Postnatal growth retardation Hypothyroidism Sensorineural hearing impairment Intellectual disability, mild Nystagmus Brachydactyly Primary amenorrhea Abnormality of the dentition Camptodactyly Decreased testicular size Strabismus Ventriculomegaly Feeding difficulties Hydrocephalus Dolichocephaly Splenomegaly Ventricular septal defect Downslanted palpebral fissures Fever Osteopenia Failure to thrive Generalized hypotonia Alopecia Abnormality of cardiovascular system morphology Scoliosis Severe short stature Posteriorly rotated ears Wide intermamillary distance Delayed puberty Triangular face Sparse hair Small for gestational age Micropenis Hypogonadotrophic hypogonadism Thrombocytopenia Bruising susceptibility Hernia Leukemia Low-set, posteriorly rotated ears Growth hormone deficiency Retrognathia Facial asymmetry Decreased serum testosterone level Delayed skeletal maturation Hyperreflexia Proptosis Pes planus

Rare Symptoms - Less than 30% cases

Coarctation of aorta Broad forehead Small nail Intrauterine growth retardation Sparse eyebrow Dental malocclusion Webbed neck Bilateral sensorineural hearing impairment Visual impairment Gingival overgrowth Prominent nose Optic atrophy Abnormal palate morphology Telangiectasia Bilateral camptodactyly Nasolacrimal duct obstruction Headache Pectus excavatum Reticulocytopenia Osteoporosis Edema Constipation Short neck Myelodysplasia Cleft palate Abnormality of blood and blood-forming tissues Hypertrophic cardiomyopathy Myopia Cognitive impairment Leukocytosis Neoplasm Type I diabetes mellitus Clitoral hypoplasia Oligospermia Choanal atresia Plagiocephaly Asymmetry of the thorax Flat occiput Finger syndactyly Hip dislocation Iris coloboma Toe syndactyly Upslanted palpebral fissure Talipes equinovarus Hypopigmented skin patches Hypoplasia of the uterus Wide nasal bridge Horseshoe kidney Bone marrow hypocellularity Anal atresia Broad finger Mitral valve prolapse Abnormality of the foot Abnormal form of the vertebral bodies Abnormality of the kidney Small hand Pancytopenia Deeply set eye Spina bifida Breast hypoplasia Hepatomegaly Cardiomyopathy Short thumb Flexion contracture Anemia Microcornea Gynecomastia Aplasia/Hypoplasia of the eyebrow Hypospadias Polyneuropathy Short nose Umbilical hernia Midface retrusion Prominent forehead Mandibular prognathia Amblyopia Clinodactyly of the 5th finger Macrocephaly Abnormality of the hypothalamus-pituitary axis External ear malformation Microphthalmia Cleft upper lip Dehydration Intestinal malrotation Hydronephrosis Thin upper lip vermilion Recurrent respiratory infections Agenesis of corpus callosum Telecanthus Premature birth Aortic valve stenosis Leukodystrophy Hypoglycemia Pachygyria Short toe Craniosynostosis Attention deficit hyperactivity disorder Microdontia Skin rash Decreased antibody level in blood Neurological speech impairment Narrow chest Talipes Smooth philtrum Sinusitis Tachycardia Single transverse palmar crease Eczema Postural instability Feeding difficulties in infancy Intellectual disability, moderate Coloboma Otitis media Low-grade fever Inguinal hernia Arteriovenous malformation Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Abnormality of the ulna Abnormal aortic morphology Abnormal eyelid morphology Chromosome breakage Hearing abnormality Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Hydroureter Ectopic kidney Squamous cell carcinoma Abnormality of chromosome stability Abnormality of nervous system morphology Recurrent infections Prolonged G2 phase of cell cycle Cerebral atrophy Immunodeficiency Syndactyly Behavioral abnormality Spasticity Muscular hypotonia Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Abnormal carotid artery morphology Primary hypothyroidism Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Meckel diverticulum Duplicated collecting system Duodenal stenosis Multicystic kidney dysplasia Abnormality of the anus Holoprosencephaly Abnormal spermatogenesis Abnormality of the pinna Cleft lip EEG abnormality Glaucoma Hyperhidrosis Arrhythmia Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal T-wave Everted lower lip vermilion Decreased serum estradiol Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Premature ovarian insufficiency Hyperlipidemia Purpura Hallucinations Choreoathetosis Sparse scalp hair Myocardial infarction Fine hair Joint hyperflexibility Delayed eruption of teeth Abnormality of extrapyramidal motor function Hypoplastic nipples Hypoplastic areola Tetraamelia Dysmenorrhea Thick nasal alae Fingernail dysplasia Abnormality of the cerebral vasculature Abnormality of the neck Decreased skull ossification Skin tags Abnormality of the clavicle Palpebral edema Underdeveloped supraorbital ridges Ectrodactyly Prematurely aged appearance Ectodermal dysplasia Keratoconus Abnormality of the thorax Hyperextensible skin Abnormality of pelvic girdle bone morphology Increased intracranial pressure Hemangioma Abnormality of the outer ear Atherosclerosis Sparse eyelashes Aminoaciduria Sparse and thin eyebrow Nephrolithiasis Abnormality of the metaphysis Psychosis Sensory neuropathy Tachypnea Transposition of the great arteries Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Missing ribs Double outlet right ventricle Abnormal eyelash morphology Bipolar affective disorder Wheezing Natal tooth Aplasia/Hypoplasia of the earlobes Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Hammertoe Heart murmur Chorioretinal coloboma Ectropion Trigonocephaly Hand polydactyly Pyloric stenosis Schizophrenia Infantile muscular hypotonia Nuclear cataract Labial hypoplasia Abnormality of movement Megakaryocyte dysplasia Arthrogryposis multiplex congenita Prominent nasal bridge Protruding ear Mental deterioration Babinski sign Abnormality of metabolism/homeostasis Dystonia Diarrhea Gait disturbance Dysarthria Peripheral neuropathy Delayed speech and language development Abnormality of the curvature of the vertebral column Congenital thrombocytopenia Abnormal thrombocyte morphology Arteria lusoria Internal hemorrhage Annular pancreas Glucose intolerance Toe clinodactyly Giant platelets Macular hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Broad columella Hypoplasia of the ulna Varicose veins Tracheoesophageal fistula Dilatation Low posterior hairline Ventricular hypertrophy Abnormal bleeding Abdominal distention High, narrow palate Pulmonic stenosis Kyphoscoliosis Gastroesophageal reflux Polyhydramnios Abdominal pain Rod-cone dystrophy Vomiting Left ventricular hypertrophy Pain Hypoplastic sacrum Frontal balding Hypoplastic pelvis Low hanging columella Disproportionate short stature Short finger Agenesis of permanent teeth Short femoral neck High pitched voice Cone-shaped epiphysis Clumsiness Lymphedema Relative macrocephaly Abnormality of the vertebral column Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Neuroblastoma Male infertility Bicuspid aortic valve 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 Poor suck Arnold-Chiari malformation Short metatarsal Widely spaced teeth Optic disc hypoplasia Hypoplasia of the ovary Premature graying of hair Cerebral hemorrhage Short phalanx of finger Wide nose Dilated cardiomyopathy Stroke Hypertension Increased female libido Abnormality of body height Absence of pubertal development Non-obstructive azoospermia Female hypogonadism Abnormal left ventricle morphology Eunuchoid habitus Decreased testosterone in males Absence of secondary sex characteristics Male hypogonadism Generalized joint laxity Secondary amenorrhea Sparse body hair Impotence Congenital sensorineural hearing impairment Abnormality of the voice Anxiety Depressivity Stroke-like episode Congenital ptosis Pointed chin Microtia Dental crowding Type II diabetes mellitus Nail dysplasia Waddling gait Short metacarpal Broad nasal tip Downturned corners of mouth Short distal phalanx of finger Long face Carious teeth Severe global developmental delay Wide mouth Abnormality of the nares Developmental regression Supernumerary ribs Spherocytosis Preauricular pit Anosmia Sacral dimple Hypoplasia of penis Retinal dystrophy Hemolytic anemia Blepharophimosis Moyamoya phenomenon Abnormal hand morphology Multiple lentigines Lymphangioma Triphalangeal thumb Episcleritis Renal insufficiency Respiratory distress Abnormality of the skeletal system Fatigue Ataxia Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Cervical lymphadenopathy Stiff skin Snoring Panniculitis Carcinoma Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Weight loss Abnormality of the eye Aspiration pneumonia Aganglionic megacolon Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Renal hypoplasia/aplasia Cranial nerve paralysis Leukopenia Abnormal vertebral morphology Insulin resistance Cafe-au-lait spot Recurrent urinary tract infections Abnormality of the genital system Irritability Short palpebral fissure Oligohydramnios Sloping forehead Tetralogy of Fallot Renal agenesis Lymphoma Hypopigmentation of the skin Neutropenia Abnormality of skin pigmentation Vertigo Astigmatism Abnormality of the liver Communicating hydrocephalus Abnormal eyebrow morphology Hypoplastic aortic arch Pneumonia Flat face Ichthyosis Lymphadenopathy Malabsorption Pectus carinatum Retinopathy Apnea Conductive hearing impairment Hepatosplenomegaly Dyspnea Hyperkeratosis Postductal coarctation of the aorta Full cheeks 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 Superior pectus carinatum Amegakaryocytic thrombocytopenia Recurrent fractures Overgrowth Enlarged kidney Stridor Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Hyperglycemia Psoriasiform dermatitis Cardiomegaly Lipodystrophy Sleep apnea Osteolysis Elbow flexion contracture Aspiration Hyperpigmentation of the skin Bronchiectasis Hypertrichosis Hypertriglyceridemia Blue sclerae Epistaxis Epidermal acanthosis Early balding


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Congenital cataract, related diseases and genetic alterations Wide nasal bridge and Recurrent fractures, related diseases and genetic alterations High palate and Telangiectasia, related diseases and genetic alterations Flexion contracture and Oligohydramnios, related diseases and genetic alterations Cataract and Muscular hypotonia of the trunk, related diseases and genetic alterations