Frontal bossing, and Hypogonadism

Diseases related with Frontal bossing and Hypogonadism

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

Top matches:

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 Is also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid|trihydroxycoprostanic acid in bile

Related symptoms:

  • Failure to thrive
  • Epicanthus
  • Hepatomegaly
  • Frontal bossing
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

2P21 MICRODELETION SYNDROME Is also known as 2p21 deletion syndrome|monosomy 2p21|del(2)(p21)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 2P21 MICRODELETION SYNDROME

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

Other less relevant matches:

High 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

High match IMAGE SYNDROME

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

Top 5 symptoms//phenotypes associated to Frontal bossing and Hypogonadism

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Failure to thrive Strabismus Brachycephaly Depressed nasal bridge Seizures Alopecia

Rare Symptoms - Less than 30% cases

Micropenis Peripheral neuropathy Ataxia Peripheral axonal neuropathy Telecanthus Concave nasal ridge Scoliosis Neoplasm Poikiloderma Brachydactyly Hypogonadotrophic hypogonadism Gait ataxia Abnormal facial shape Prominent forehead Cutaneous photosensitivity Sparse scalp hair Osteosarcoma Basal cell carcinoma Growth hormone deficiency Squamous cell carcinoma Pigmentary retinopathy Abnormality of the dentition Short stature Feeding difficulties Visual impairment Vomiting Diarrhea Osteopenia Sparse hair Postnatal growth retardation Rod-cone dystrophy Intellectual disability, moderate Depressivity Fat malabsorption Cirrhosis Low-set, posteriorly rotated ears Cholestasis Abnormality of the liver Hypoglycemia Hypocalcemia Muscular hypotonia Hypertelorism Nystagmus Hepatomegaly Intrauterine growth retardation Low-set ears Long eyelashes Hypergonadotropic hypogonadism Unilateral renal agenesis Central heterochromia Choroideremia Long eyebrows Precocious puberty Drooling Alopecia areata Deeply set eye Stereotypy Anemia Recurrent hypoglycemia Tetralogy of Fallot Skeletal dysplasia Nail dystrophy Hypotrichosis Nausea and vomiting Neutropenia Palmoplantar keratoderma Titubation Sensory axonal neuropathy 2-3 toe syndactyly Distal amyotrophy Pallor Distal muscle weakness Small for gestational age Spastic paraplegia Delayed puberty Paraplegia Self-biting Retinal degeneration Severe expressive language delay Abnormality of brain morphology Thick eyebrow Progressive gait ataxia Progressive cerebellar ataxia Echolalia Gonadal dysgenesis Hypoplasia of penis Clumsiness Neurodevelopmental delay Gynecomastia Horizontal nystagmus Short thumb Chorioretinal atrophy Retinal atrophy Microdontia Absent eyelashes Hypoplasia of the radius Atrophy/Degeneration affecting the brainstem Sensorimotor neuropathy Bilateral single transverse palmar creases Paraparesis Spastic paraparesis Synophrys Short philtrum Autistic behavior Aggressive behavior Apathy Agitation Iris hypopigmentation Intention tremor Biliary tract abnormality Generalized hypotonia Microcephaly High palate Downslanted palpebral fissures Ventricular septal defect Talipes equinovarus Absent speech Hernia Clinodactyly of the 5th finger Hyperactivity Hemiparesis Status epilepticus Brittle hair Mental deterioration Myelodysplasia Absent eyebrow Prematurely aged appearance Hypoplasia of teeth Spasticity Dysarthria Optic atrophy Tremor Headache Encephalopathy Photophobia Irritability Type II diabetes mellitus Broad nasal tip Retinopathy Confusion Unsteady gait Nausea Distal sensory impairment Sensory neuropathy Polyneuropathy Joint hypermobility Sensory impairment Migraine Coma Abnormality of skin pigmentation Hypothyroidism Mandibular prognathia Scrotal hypoplasia Coronal craniosynostosis Calvarial skull defect Conical tooth Broad philtrum Agenesis of cerebellar vermis Bifid nose Wide nasal bridge Hydrocephalus Glaucoma Carious teeth Fine hair Arachnodactyly Iris coloboma Cerebral calcification Hemivertebrae Melanocytic nevus Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Encephalocele Oligohydramnios Hearing impairment Intrahepatic cholestasis Jaundice Elevated hepatic transaminase Malabsorption Hepatic failure Single transverse palmar crease Hepatitis Hyperbilirubinemia Abnormality of the coagulation cascade Steatorrhea Prolonged neonatal jaundice Giant cell hepatitis Underdeveloped nasal alae Lactic acidosis Decreased fetal movement Nephrolithiasis Nasal speech Cystinuria Mitochondrial respiratory chain defects Anteverted nares Intellectual disability, mild Microphthalmia Agenesis of corpus callosum Upslanted palpebral fissure Plantar pits Sensorineural hearing impairment Severe short stature Melanoma Hyperkeratosis Carcinoma Erythema Skin rash Leukemia Hypopigmentation of the skin Abnormal blistering of the skin Overgrowth Eczema Telangiectasia Erythroderma Osteoporosis Striae distensae Severe vision loss Alopecia of scalp Acantholysis Lamellar cataract Acrokeratosis Muscle weakness Cognitive impairment Cerebellar atrophy Obesity Hyperhidrosis Edema Cleft palate Abnormality of the genital system Macrocephaly Short nose Hypospadias Delayed skeletal maturation Hydronephrosis Respiratory tract infection Craniosynostosis Muscular dystrophy Micromelia Bilateral sensorineural hearing impairment Nephrocalcinosis Pain Short long bone Hypercalciuria Hypercalcemia Epiphyseal dysplasia Bilateral cryptorchidism Adrenal insufficiency Metaphyseal dysplasia Primary adrenal insufficiency Adrenal hypoplasia Metaphyseal cupping Congenital adrenal hypoplasia Severe receptive language delay


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