Frontal bossing, and Ectodermal dysplasia

Diseases related with Frontal bossing and Ectodermal dysplasia

In the following list you will find some of the most common rare diseases related to Frontal bossing and Ectodermal dysplasia 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

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Other less relevant matches:

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

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

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

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

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

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Top 5 symptoms//phenotypes associated to Frontal bossing and Ectodermal dysplasia

Symptoms // Phenotype % cases
Sparse hair Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormality of the dentition Common - Between 50% and 80% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Hypertelorism Sparse eyelashes Anhidrotic ectodermal dysplasia Hypohidrosis Brachydactyly Everted lower lip vermilion Short distal phalanx of finger Hypertension Depressed nasal bridge Dry skin Hypodontia Sparse scalp hair High palate Heat intolerance Low-set ears Fine hair Cleft palate Smooth philtrum Pneumonia Limb undergrowth Global developmental delay Periorbital wrinkles Immunodeficiency Nephronophthisis Growth delay Wide nasal bridge Macrocephaly Chronic kidney disease Anteverted nares Strabismus Arthritis Stage 5 chronic kidney disease Hepatic fibrosis Narrow chest Craniosynostosis Midface retrusion Joint laxity Hypotrichosis Microdontia Cutis laxa Thin skin Sparse and thin eyebrow Rod-cone dystrophy Renal insufficiency Anhidrosis Conical tooth

Rare Symptoms - Less than 30% cases

Widely spaced teeth Sagittal craniosynostosis Rhizomelia Intellectual disability Feeding difficulties Cholestasis Intellectual disability, severe Fever Short nose High forehead Osteoarthritis Genu valgum Proptosis Brachycephaly Malar flattening Long philtrum Visual impairment Nystagmus Hearing impairment Sparse eyebrow Inguinal hernia Hypoplasia of the maxilla Hernia Epicanthus Pes valgus Cutaneous finger syndactyly Bone marrow hypocellularity Full cheeks Thin vermilion border Pectus excavatum Generalized hypotonia Rhinitis Postaxial hand polydactyly Seizures Recurrent infections Anodontia Hoarse voice Depressed nasal ridge Sparse body hair Osteomyelitis Hypoplastic nipples Delayed eruption of teeth Soft skin Anterior hypopituitarism Delayed speech and language development Absent nipple Hypohidrotic ectodermal dysplasia Everted upper lip vermilion Respiratory tract infection Hepatosplenomegaly Periorbital hyperpigmentation Recurrent respiratory infections Thick vermilion border Agenesis of permanent teeth Aplasia/Hypoplasia of the eyebrow Syndactyly Concave nasal ridge Absent eyebrow Type I diabetes mellitus Oligodontia Telecanthus Polydactyly Downturned corners of mouth Lumbar scoliosis Bulbous nose Broad thumb Broad-based gait Thick eyebrow Short palm Short palpebral fissure Hemiparesis Wide nose Intellectual disability, profound Decreased testicular size Convex nasal ridge Febrile seizures Nail dysplasia Dental malocclusion Prominent nose Sleep disturbance Abnormal leukocyte morphology Joint dislocation Long face Talipes equinovarus Narrow mouth Hyperactivity Osteoporosis Posteriorly rotated ears Clinodactyly of the 5th finger Absent speech Behavioral abnormality Downslanted palpebral fissures Osteopenia Hyperreflexia Flexion contracture Ptosis Spasticity Muscular hypotonia Abnormal facial shape Microcephaly Autism Thin upper lip vermilion Elevated serum acid phosphatase Facial asymmetry Arachnodactyly Tooth abscess Long eyelashes Talipes Joint hyperflexibility Poor speech Mandibular osteomyelitis Abnormality of the foot Anxiety Abnormality of the cerebral white matter Broad forehead Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Postnatal growth retardation Camptodactyly Aggressive behavior Dental crowding Restlessness Microretrognathia Abnormal cranial nerve morphology Hydrocephalus Small distal femoral epiphysis Blindness Dilatation Extramedullary hematopoiesis Thrombocytopenia Visual loss Mandibular prognathia Facial palsy Paralysis Carious teeth Generalized osteosclerosis Neurodegeneration Facial paralysis Recurrent fractures Anemia Osteopetrosis Aseptic necrosis Pancytopenia Abnormality of the metaphysis Recurrent urinary tract infections Abnormality of epiphysis morphology Lymphedema Hyperostosis Bone pain Increased bone mineral density Increased susceptibility to fractures Hypocalcemia Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Optic atrophy Muscle weakness Drooling Short columella Tented upper lip vermilion Relative macrocephaly Dermal atrophy Abnormality of dental morphology Overlapping toe Bilateral talipes equinovarus Myopathic facies Long nose Abnormality of digit Cranial nerve paralysis Cranial hyperostosis Abnormality of the periventricular white matter Narrow nose Self-mutilation Broad hallux phalanx Scoliosis Large beaked nose Narrow jaw Conspicuously happy disposition Fractures of the long bones Narrow maxilla Incomprehensible speech Dacryocystitis Hip osteoarthritis Cleft soft palate Median cleft palate Toe clinodactyly Happy demeanor Overbite Excessive salivation Generalized osteoporosis Edema Cholangitis Meningeal calcification Asthma Dysphonia Prominent supraorbital ridges Brittle hair Absent eyelashes Taurodontia Concave nail Abnormal oral mucosa morphology Aplasia/Hypoplastia of the eccrine sweat glands Hypoplastic-absent sebaceous glands Protruding ear Hypermetropia Joint hypermobility Nephropathy Hip dysplasia Eczema Recurrent pneumonia Cone/cone-rod dystrophy Elevated serum creatinine Broad distal phalanx of finger Broad phalanx of the toes Hepatomegaly Short neck Splenomegaly Clinodactyly Patent ductus arteriosus Abnormal heart morphology Upslanted palpebral fissure Acidosis Polyhydramnios Short chin Underdeveloped nasal alae Elevated hepatic transaminase Recurrent infection of the gastrointestinal tract Cellulitis Periorbital edema Conical incisor Recurrent streptococcus pneumoniae infections Hyperkeratosis Palmoplantar hyperkeratosis Failure to thrive Diarrhea Chronic diarrhea Bronchiectasis Leukocytosis Agammaglobulinemia Lymphocytosis Aplasia of the sweat glands Prominent forehead Defective production of NFKB1-dependent cytokines Pulmonic stenosis Toe syndactyly Cirrhosis Postaxial polydactyly Sandal gap Scaphocephaly Hypoplasia of teeth Peripheral pulmonary artery stenosis Short nail Bilateral postaxial polydactyly Broad nail 3-4 toe syndactyly Respiratory distress Retrognathia Proteinuria Small proximal tibial epiphyses Pierre-Robin sequence Retinal detachment Bifid uvula Esotropia Otitis media Cerebral calcification High myopia Thick lower lip vermilion Recurrent otitis media Amblyopia Coxa valga Ectopia lentis Thickened calvaria Aplasia cutis congenita Vitreoretinopathy Congenital cataract Radial bowing Hypoplasia of the zygomatic bone Thick upper lip vermilion Hypoplastic ilia Ulnar bowing Lens luxation Absent frontal sinuses Hypoplastic frontal sinuses Abnormal vitreous humor morphology Calcification of falx cerebri Macrodontia of permanent maxillary central incisor Irregular proximal tibial epiphyses Irregular distal femoral epiphysis Wide tufts of distal phalanges Flat face Platyspondyly Abnormality of the pinna Cystic hygroma Blepharophimosis Dolichocephaly Renal cyst Narrow forehead Left ventricular hypertrophy Hydrops fetalis Short ribs Hyperbilirubinemia Narrow palpebral fissure Plagiocephaly Patent foramen ovale Preaxial polydactyly Mesomelia Polysplenia Arthralgia High anterior hairline Biliary cirrhosis Broad philtrum Cloverleaf skull Bile duct proliferation Portal fibrosis Horizontal ribs Metopic synostosis Fused teeth Sensorineural hearing impairment Cataract Myopia Depressivity Glaucoma Abnormality of the vertebral endplates


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