Hydrocephalus, and Hypogonadism

Diseases related with Hydrocephalus and Hypogonadism

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


Top matches:

Medium match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Medium match CRANIOPHARYNGIOMA


Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

Medium match MIRAGE SYNDROME


MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

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Other less relevant matches:

Medium match ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME


Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

Medium match ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1


Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of AcrodysostosisSee also ACRDYS2 (OMIM ), caused by mutation in the PDE4D gene (OMIM ) on chromosome 5q12.

ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 Is also known as adohr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1


Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 Is also known as robinow dwarfism|acral dysostosis with facial and genital abnormalities|fetal face syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1

Medium match MICROPHTHALMIA WITH LIMB ANOMALIES


Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome|waardenburg syndrome, type ivc|waardenburg syndrome with hirschsprung disease, type 4c|oas|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES

Medium match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Medium match FRONTONASAL DYSPLASIA 1; FND1


The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Medium match LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM


Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Is also known as lenz-majewski syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hypogonadism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hydrocephalus and Hypogonadism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Wide nasal bridge Brachydactyly Hypospadias Hypertelorism Midface retrusion Depressed nasal bridge Delayed eruption of teeth Micropenis Growth delay Strabismus Cataract Seizures Agenesis of corpus callosum Micrognathia Microphthalmia Low-set ears Epicanthus Sensorineural hearing impairment Microcephaly Abnormal heart morphology Cleft palate Failure to thrive Intellectual disability, moderate Dilatation Motor delay Coloboma Intrauterine growth retardation Specific learning disability Talipes equinovarus Increased intracranial pressure Wide nose Hypothyroidism Prominent forehead Anophthalmia Severe short stature Iris coloboma Short palm High palate Mandibular prognathia Long philtrum Anteverted nares Hypogonadotrophic hypogonadism Brachycephaly Hemivertebrae Optic atrophy Hypoplasia of the maxilla Hernia Macrocephaly

Rare Symptoms - Less than 30% cases


Ventricular septal defect Hypodontia Broad thumb Abnormal nasolacrimal system morphology Muscular hypotonia Dental malocclusion Abnormal facial shape Broad nasal tip Calvarial hyperostosis Cone-shaped epiphysis Generalized hypotonia Long eyelashes Epispadias Chordee Shawl scrotum Radial deviation of finger Adrenal insufficiency Anteriorly placed anus Small hand Blue irides Skeletal dysplasia Oral cleft Inguinal hernia Delayed skeletal maturation Upslanted palpebral fissure Periventricular leukomalacia Proptosis Hypergonadotropic hypogonadism Sclerocornea Increased number of teeth Wide mouth Abnormality of the penis Patent foramen ovale Visual loss Short neck Abnormal vertebral morphology Heterotopia Abnormality of the genital system Macroglossia Growth hormone deficiency Kyphosis Facial palsy Posteriorly rotated ears Short nose Clinodactyly Retrognathia Absent septum pellucidum Hyperpigmentation of the skin Arrhythmia Finger syndactyly Joint hyperflexibility Abnormality of dental enamel Hypopigmentation of the skin Postaxial hand polydactyly Diabetes insipidus Hypopigmented skin patches Abnormality of the metacarpal bones Postnatal growth retardation Hypoglycemia Obesity Dermal atrophy Abnormality of cardiovascular system morphology Syndactyly Atrial septal defect Vertebral fusion Melanocytic nevus Cerebral calcification Carious teeth Telecanthus Glaucoma Neoplasm Blepharophimosis Intellectual disability, mild Patent ductus arteriosus Aplasia of the middle phalanx of the hand Aplasia/Hypoplasia of the skin Recurrent urinary tract infections Decreased testicular size Ocular albinism Blindness Abnormal eyelid morphology Abnormality of metabolism/homeostasis Respiratory failure Dyspnea Preauricular pit Chorioretinal dysplasia Respiratory distress Retinal dysplasia Abnormality of the ear Abnormal vitreous humor morphology Hypertrophic cardiomyopathy Abnormality of the fallopian tube Congenital glaucoma Erythema Cardiomyopathy Abnormal eyelash morphology Feeding difficulties Abnormality of the rectum Abnormality of the skeletal system Ptosis Nystagmus Anal fistula Asymmetric, linear skin defects Cleft earlobe Aplasia cutis congenita Male pseudohermaphroditism Vitritis Histiocytoid cardiomyopathy Anencephaly Orbital cyst True anophthalmia Posterior embryotoxon Abnormal cardiac septum morphology Echolalia Corneal opacity Skin rash Intellectual disability, progressive Amblyopia Abnormality of retinal pigmentation Abnormality of the anus Tricuspid valve prolapse Cafe-au-lait spot Abnormality of the nail Abnormality of earlobe Hypoplasia of the uterus Status epilepticus Sacral dimple Mutism Dysphasia Aphasia Albinism Clitoral hypertrophy Ventricular fibrillation Mitral regurgitation Overriding aorta Tricuspid regurgitation Tachycardia Dilated cardiomyopathy Nail dystrophy Arteria lusoria Functional motor deficit Anal atresia Ovotestis Abnormality of skin pigmentation Retinal dystrophy Colpocephaly Pigmentary retinopathy Mitral valve prolapse Ambiguous genitalia Alopecia Congenital diaphragmatic hernia Supraventricular tachycardia Abnormality of the testis Mandibular aplasia Short columella Polydactyly Hyperostosis Osteopetrosis Microglossia Submucous cleft hard palate Prematurely aged appearance Thickened calvaria Reduced subcutaneous adipose tissue Limited elbow extension External genital hypoplasia Delayed cranial suture closure Flared metaphysis Short middle phalanx of finger Cutis marmorata Redundant skin Choanal stenosis Relative macrocephaly Cutaneous syndactyly Cutis laxa Knee flexion contracture Elbow flexion contracture Increased bone mineral density Short toe Hypoplasia of dental enamel Large fontanelles Thin skin Abnormality of the metaphysis Choanal atresia Hip dysplasia Abnormality of finger Progeroid facial appearance Bifid uvula Sclerosis of skull base Progressive sclerosis of skull base Lumbar kyphoscoliosis Exodeviation Facial hyperostosis Prominent scalp veins Proximal symphalangism of hands Proximal symphalangism Broad clavicles Absent axillary hair Elbow ankylosis Aplasia/Hypoplasia of the middle phalanges of the hand Hyperconvex fingernails Cranial hyperostosis Delayed eruption of permanent teeth Premature skin wrinkling Lacrimal duct stenosis Humeroradial synostosis Aplastic clavicle Diaphyseal thickening Nasolacrimal duct obstruction Femoral hernia Hyperextensibility of the finger joints Generalized osteosclerosis Symphalangism affecting the phalanges of the hand Abnormal cortical bone morphology Prominent superficial veins Broad ribs Hypoplastic fingernail Limitation of joint mobility High, narrow palate Conductive hearing impairment Lymphedema Meningocele Lipoma Median cleft lip Facial cleft Occipital encephalocele Partial agenesis of the corpus callosum Multiple lipomas Preaxial polydactyly Easy fatigability Scrotal hypoplasia Joint contracture of the hand Preauricular skin tag Abnormality of the face Lacrimal gland hypoplasia Encephalocele Fine hair Oligohydramnios Tetralogy of Fallot Dandy-Walker malformation Underdeveloped nasal alae Postural instability Postaxial polydactyly Talipes Hypotrichosis Craniosynostosis Camptodactyly Cleft lip Coronal craniosynostosis Calvarial skull defect Thick vermilion border Morning glory anomaly Broad forehead Sparse hair Joint laxity Kyphoscoliosis Macrotia Cerebral cortical atrophy Abnormality of the dentition Anterior basal encephalocele Midline facial cleft Pectoral muscle hypoplasia/aplasia Frontal cutaneous lipoma Lipoma of corpus callosum Cranium bifidum occultum Scleral staphyloma Widow's peak Widely-spaced maxillary central incisors Hypoplastic frontal sinuses Absent tibia Median cleft palate Parietal foramina Broad columella Bifid nose Agenesis of cerebellar vermis Broad philtrum Alopecia totalis Bifid nasal tip Conical tooth Preaxial foot polydactyly Camptodactyly of 2nd-5th fingers Clitoral hypoplasia Hypoplasia of the premaxilla Myelodysplasia Esophageal stricture Microphallus Achalasia Overlapping fingers Aspiration pneumonia Adrenal hypoplasia Petechiae Hyperkalemia Rocker bottom foot Hyponatremia Intracranial hemorrhage Hypoplastic spleen Abnormal intestine morphology Leukopenia Recurrent bacterial infections Meningitis Lymphopenia Chronic diarrhea Decreased body weight Sepsis Paraplegia Gastroesophageal reflux Thrombocytopenia Radial club hand Ventriculomegaly Anemia Rib fusion Cervical hemivertebrae Glandular hypospadias Hypothalamic hamartoma Multiple impacted teeth Absent gallbladder Vertebral hypoplasia Supernumerary ribs Anterior pituitary hypoplasia Butterfly vertebrae Gonadotropin deficiency 11 pairs of ribs Hypoplasia of the corpus callosum Missing ribs Esophageal atresia Spastic diplegia Tracheoesophageal fistula Chorioretinal coloboma Optic nerve hypoplasia Holoprosencephaly Spastic tetraplegia Hypoplasia of penis Single transverse palmar crease Congenital cataract Diarrhea Abnormality of the frontal bone Pain Anxiety Amenorrhea Hypotension Coma Sleep disturbance Nausea Vertigo Confusion Delayed puberty Nausea and vomiting Lethargy Constipation Myocardial infarction Recurrent infections Headache Behavioral abnormality Vomiting Fatigue Plantar pits Palmar pits Vertebral wedging Abnormality of the sense of smell Abnormality of the neck Arachnodactyly Type II diabetes mellitus Increased body weight Abnormality of the nasal bone Central adrenal insufficiency Abnormal hypothalamus morphology Neoplasm of the anterior pituitary Intracranial cystic lesion Abnormal visual field test Craniopharyngioma Progressive visual field defects Enlarged pituitary gland Slow decrease in visual acuity Bitemporal hemianopia Sudden loss of visual acuity Central diabetes insipidus Sleep apnea Cerebral ischemia Pituitary hypothyroidism Excessive daytime somnolence Prolactin excess Papilledema Proportionate short stature Hypopituitarism Orthostatic hypotension Polyphagia Impotence Increased susceptibility to fractures Proximal esophageal atresia Delayed speech and language development Synostosis of joints Clinodactyly of the 5th finger Horseshoe kidney Bilateral single transverse palmar creases Aganglionic megacolon Bowing of the long bones Abnormal form of the vertebral bodies Thin vermilion border Cleft upper lip Toe syndactyly Hip dislocation Low-set, posteriorly rotated ears Intellectual disability, severe Anosmia Absent penis Right ventricular outlet obstruction Bifid distal phalanx of toe Short hard palate Duplication of the distal phalanx of hand Broad toe Renal duplication Triangular mouth Short middle phalanx of the 5th finger Elevated circulating follicle stimulating hormone level Bifid tongue Sandal gap Short long bone Misalignment of teeth Abnormality of the upper limb White eyebrow Foot oligodactyly White eyelashes Macrodontia Arrhinencephaly Hand oligodactyly Intestinal pseudo-obstruction Venous insufficiency White forelock Abnormality of the thumb White hair Elbow dislocation Abnormality of the lower limb Large earlobe Heterochromia iridis Short tibia Abnormal eyebrow morphology Postaxial foot polydactyly Synostosis of carpal bones Fibular hypoplasia Tarsal synostosis Tibial bowing Premature graying of hair Communicating hydrocephalus Hypoplastic labia majora Hypertension Short finger Long hallux Constrictive median neuropathy Menstrual irregularities Elevated circulating parathyroid hormone level Fair hair Cone-shaped epiphyses of the phalanges of the hand Epiphyseal stippling Spinal canal stenosis Dislocated radial head Broad palm Mixed hearing impairment Thyroid hypoplasia Dextrocardia Mild short stature Short metatarsal Disproportionate short-limb short stature Accelerated skeletal maturation Short phalanx of finger Open mouth Otitis media Short metacarpal Nevus Small for gestational age Hypoplastic vertebral bodies Narrow vertebral interpedicular distance Capillary hemangioma Limb undergrowth Nevus flammeus Hypoplastic nipples Long palpebral fissure Mesomelia Hemangioma Short chin Narrow palate Wide anterior fontanel Gingival overgrowth Rhizomelia Dental crowding Nail dysplasia Mild postnatal growth retardation Vesicoureteral reflux Downturned corners of mouth Flat face Scarring Hydronephrosis Thin upper lip vermilion Umbilical hernia Pectus excavatum Malar flattening Downslanted palpebral fissures Neonatal epiphyseal stippling Stiff finger



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