Frontal bossing, and Hyperhidrosis

Diseases related with Frontal bossing and Hyperhidrosis

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

Top matches:

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

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

Other less relevant matches:

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

High match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

High match ACROMEGALY

Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

High match MARSHALL SYNDROME

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Sparse hair Uncommon - Between 30% and 50% cases
Ectodermal dysplasia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the dentition Hypertension High palate Depressivity Seizures Kyphosis Depressed nasal bridge Anteverted nares Macrocephaly Anhidrotic ectodermal dysplasia Muscular hypotonia Hyperreflexia Brachydactyly Short nose Strabismus Sleep apnea Hypertelorism Malar flattening Osteopenia Sparse scalp hair Hyperlordosis Global developmental delay Midface retrusion Anterior hypopituitarism Growth delay Ptosis Hypotrichosis Hypohidrosis Sleep disturbance Sparse and thin eyebrow Hoarse voice Sparse eyelashes Thin skin Hypodontia

Rare Symptoms - Less than 30% cases

Dental crowding Dental malocclusion Absent speech Short palm Clonus Joint hyperflexibility Neurological speech impairment Acanthosis nigricans Limited elbow extension Spinal canal stenosis Sudden cardiac death Obesity Apnea Diabetes mellitus Autism Camptodactyly Talipes Hydrocephalus Smooth philtrum Abnormality of the skeletal system Thick eyebrow Short palpebral fissure Dysarthria Microretrognathia Excessive salivation Talipes equinovarus Anxiety Mandibular prognathia Conical tooth Scoliosis Short neck Cerebral calcification Esotropia Brachycephaly Long philtrum Respiratory insufficiency Myopia Constipation Wide nasal bridge Low-set ears Abnormality of the cerebral white matter Micrognathia Arthralgia Nystagmus Hypersomnia Generalized hypotonia Osteoarthritis Abnormal facial shape Thick lower lip vermilion Tapered finger Wide nose Long face Flexion contracture Broad forehead Spasticity Coarse facial features Fever Cleft palate Dysphonia Delayed eruption of teeth Hypogonadism Osteoporosis Prominent forehead Vomiting Hyperkeratosis Short distal phalanx of finger Thick vermilion border Visual impairment Cataract Everted lower lip vermilion Neoplasm Periorbital hyperpigmentation Periorbital wrinkles Everted upper lip vermilion Hypohidrotic ectodermal dysplasia Eczema Absent nipple Heat intolerance Anodontia Microdontia Soft skin Hypoplastic nipples Sparse body hair Agenesis of permanent teeth Depressed nasal ridge Aplasia/Hypoplasia of the eyebrow Anhidrosis Type I diabetes mellitus Absent eyebrow Oligodontia Postnatal growth retardation Dry skin Intellectual disability, severe Respiratory distress Hypoplasia of the maxilla Concave nasal ridge Recurrent singultus Generalized osteoporosis Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Progressive macrocephaly Broad hallux phalanx Pseudobulbar signs Large face Overbite Aqueductal stenosis Pes valgus Bulbar signs Hypothermia Megalencephaly Cleft soft palate Long eyelashes Short columella Clinodactyly Hypoglycemia Retrognathia Gastroesophageal reflux Polyhydramnios Bilateral talipes equinovarus Micropenis Myopathic facies Increased CSF protein Long nose Abnormality of digit Restlessness Abnormality of the periventricular white matter Cryptorchidism Narrow nose Self-mutilation Poor coordination Drowsiness Recurrent streptococcus pneumoniae infections Nausea and vomiting Happy demeanor Toe clinodactyly Median cleft palate Dysmetria Abnormality of eye movement Large beaked nose Dacryocystitis Incomprehensible speech Gliosis Cough Abnormal pyramidal sign Developmental regression Narrow maxilla Facial palsy EEG abnormality Conspicuously happy disposition Tetraplegia Chorea Atrophy/Degeneration affecting the brainstem Precocious puberty Muscle fibrillation Progressive spasticity Bowel incontinence Dysphasia Emotional lability Oral-pharyngeal dysphagia Self-injurious behavior Encephalitis Hypotension Leukoencephalopathy Abnormal autonomic nervous system physiology Muscle stiffness Leukodystrophy Diplopia Peripheral demyelination Amenorrhea Neonatal hypotonia Autistic behavior Broad thumb Clinodactyly of the 5th finger Joint laxity Aggressive behavior Thin upper lip vermilion High forehead Narrow mouth Hyperactivity Posteriorly rotated ears Inguinal hernia Short philtrum Hernia Behavioral abnormality Downslanted palpebral fissures Delayed speech and language development Microcephaly Intermittent hyperventilation Narrow palm Attention deficit hyperactivity disorder Prominent nasal bridge Multiple pterygia Nail dysplasia Broad-based gait Hemiparesis Fine hair Intellectual disability, profound Decreased testicular size Convex nasal ridge Febrile seizures Prominent nose Abnormality of the foot Downturned corners of mouth Bulbous nose Thin vermilion border Drooling Arachnodactyly Poor speech Facial asymmetry Temperature instability Abnormality of the philtrum Wide mouth Narrow forehead Weight loss Overlapping toe Increased body weight Exotropia Open mouth Osteomyelitis Decreased fetal movement Wide intermamillary distance Poor suck Short foot Small hand Inability to walk Cellulitis Periorbital edema Conical incisor Arthrogryposis multiplex congenita Adducted thumb Pterygium Arthritis Relative macrocephaly Hyperinsulinemic hypoglycemia Misalignment of teeth Tented upper lip vermilion Fetal akinesia sequence Hyperventilation Hypoventilation Delayed ability to walk Dermal atrophy Failure to thrive in infancy Abnormality of dental morphology Short humerus Polyphagia Rocker bottom foot Akinesia Impulsivity Trigonocephaly Hyperinsulinemia Hypothyroidism Muscle weakness Respiratory failure Disproportionate short stature Long thorax Neonatal short-limb short stature Diaphyseal thickening Large forehead Abnormality of the elbow Obstructive sleep apnea Abnormal blistering of the skin Overgrowth Narrow sacroiliac notch Mesomelia Flared metaphysis Chronic otitis media Elbow dislocation Abnormality of pelvic girdle bone morphology Genu varum Short long bone Disproportionate short-limb short stature Aplasia/hypoplasia of the extremities Childhood onset short-limb short stature Cutaneous photosensitivity Carcinoma Diarrhea Alopecia Migraine Full cheeks Macroglossia Paresthesia Synophrys Hypertrophic cardiomyopathy Abnormality of the ilium Erythema Skin rash Macrotia Leukemia Abnormality of skin pigmentation Hypopigmentation of the skin Fatigue Acromelia Wormian bones Rhizomelia Tall stature Underdeveloped nasal alae Lamellar cataract Acrokeratosis Ventriculomegaly Intrauterine growth retardation Immunodeficiency Recurrent respiratory infections Respiratory tract infection Hypoplastic-absent sebaceous glands Poikiloderma Aplasia/Hypoplastia of the eccrine sweat glands Abnormal oral mucosa morphology Concave nail Short chin Taurodontia Absent eyelashes Rhinitis Brittle hair Acantholysis Osteosarcoma Telangiectasia Erythroderma Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Lumbar hyperlordosis Abnormality of the ribs Limb undergrowth Melanoma Squamous cell carcinoma Severe short stature Micromelia Basal cell carcinoma Narrow chest Striae distensae Joint stiffness Severe vision loss Alopecia of scalp Conductive hearing impairment Mitral regurgitation Thickened skin Dementia Vitreoretinopathy Absent frontal sinuses Lens luxation Ulnar bowing Hypoplastic ilia Thick upper lip vermilion Hypoplasia of the zygomatic bone Radial bowing Pierre-Robin sequence Abnormal vitreous humor morphology Aplasia cutis congenita Thickened calvaria Sparse eyebrow Ectopia lentis Coxa valga Amblyopia Recurrent otitis media High myopia Hypoplastic frontal sinuses Calcification of falx cerebri Bifid uvula Cognitive impairment Agenesis of corpus callosum Hyporeflexia Palmoplantar hyperkeratosis Dysphagia Gait disturbance Tremor Motor delay Prominent supraorbital ridges Macrodontia of permanent maxillary central incisor Failure to thrive Ataxia Small distal femoral epiphysis Meningeal calcification Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Otitis media Retinal detachment Generalized hirsutism Joint swelling Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Growth hormone excess Palpebral edema Long penis Generalized hyperpigmentation Impotence Large hands Acne Growth abnormality Cerebral palsy Widely spaced teeth Abnormality of the fingernails Pheochromocytoma Paraganglioma Flat face Pain Genu valgum Congenital cataract Platyspondyly Proptosis Glaucoma Epicanthus Sensorineural hearing impairment Hearing impairment Edema Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Macrodactyly Dysmenorrhea Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Narrow jaw


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