Frontal bossing, and Abnormality of the dentition

Diseases related with Frontal bossing and Abnormality of the dentition

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


Top matches:

Low match TRICHO-DENTO-OSSEOUS SYNDROME


Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.

TRICHO-DENTO-OSSEOUS SYNDROME Is also known as tdo syndrome

Related symptoms:

  • Macrocephaly
  • Frontal bossing
  • Skeletal dysplasia
  • Dolichocephaly
  • Carious teeth


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHO-DENTO-OSSEOUS SYNDROME

Low match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

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Other less relevant matches:

Low match SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS


Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

Low match CHILDHOOD-ONSET HYPOPHOSPHATASIA


Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia (see this term) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.

CHILDHOOD-ONSET HYPOPHOSPHATASIA Is also known as childhood-onset phosphoethanolaminuria|childhood-onset rathburn disease

Related symptoms:

  • Seizures
  • Short stature
  • Pain
  • Motor delay
  • Frontal bossing


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET HYPOPHOSPHATASIA

Low match SCLEROSTEOSIS 2; SOST2


Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Low match MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY


Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Depressed nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

Low match OSTEOGENESIS IMPERFECTA TYPE 3


Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 3 Is also known as severe osteogenesis imperfecta|osteogenesis imperfecta, progressively deforming, with normal sclerae|progressive deforming osteogenesis imperfecta|oi type 3|oi, type iii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 3

Low match HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS


Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.

HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS Is also known as vdrr ii|vddr ii|vitamin d-dependent rickets type ii|hvdrr|hereditary vitamin d-resistant rickets|vitamin d-resistant rickets type ii

Related symptoms:

  • Short stature
  • Scoliosis
  • Gait disturbance
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS

Low match FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES 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

Top 5 symptoms//phenotypes associated to Frontal bossing and Abnormality of the dentition

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Dolichocephaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Macrocephaly

Rare Symptoms - Less than 30% cases


Genu valgum Abnormality of the skeletal system Hypodontia Alopecia Depressed nasal bridge Hypoplasia of dental enamel Abnormality of the thorax Pain Myopathy Wormian bones Recurrent fractures Arthralgia Waddling gait Premature loss of primary teeth Hearing impairment Carious teeth Genu varum Coronal craniosynostosis Kyphosis Downslanted palpebral fissures Craniosynostosis Brachycephaly Abnormality of the nervous system Ankle pain Micrognathia Broad philtrum Kyphoscoliosis Intellectual disability, moderate Telecanthus Flattened epiphysis Hypogonadism Upslanted palpebral fissure Triangular face Calvarial skull defect Agenesis of corpus callosum Pulmonary arterial hypertension Microphthalmia Knee osteoarthritis Underdeveloped nasal alae Wide anterior fontanel Epiphyseal dysplasia Micromelia Short palm Limitation of joint mobility Hip dysplasia Osteoarthritis Abnormality of epiphysis morphology Fine hair Mild short stature Oligohydramnios Agenesis of cerebellar vermis Abnormal joint morphology Multiple epiphyseal dysplasia Irregular epiphyses Small epiphyses Hypoplasia of the capital femoral epiphysis Osteochondritis Dissecans Blue sclerae Low-set ears Increased susceptibility to fractures Hyperparathyroidism Bone pain Hypocalcemia Joint dislocation Osteolysis Hypophosphatemia Abnormality of the hip bone Osteomalacia Anteverted nares Bone cyst Rough bone trabeculation Intrauterine growth retardation Abnormal bone structure Abnormal adipose tissue morphology Nystagmus Strabismus Nephrolithiasis Abnormal form of the vertebral bodies Cryptorchidism Protrusio acetabuli Tibial bowing Slender long bone Dentinogenesis imperfecta Platybasia Biconcave vertebral bodies Neonatal short-limb short stature Multiple prenatal fractures Basilar impression Abnormality of the metaphysis Encephalocele Decreased calvarial ossification Intellectual disability, mild Conical tooth Bowing of limbs due to multiple fractures Severe generalized osteoporosis Abnormality of the skin Scrotal hypoplasia Dental malocclusion Proximal muscle weakness Metopic synostosis Visual field defect Increased number of teeth Turricephaly Cleft soft palate Cloverleaf skull Anterior plagiocephaly Brachyturricephaly Bicoronal synostosis Trigonocephaly Unicoronal synostosis Fever Hyperhidrosis Arthritis Dry skin Ectodermal dysplasia Osteomyelitis Cellulitis Triphalangeal thumb Hypotelorism Conical incisor Amelogenesis imperfecta Skeletal dysplasia Microdontia Abnormality of the hair Increased bone mineral density Widely spaced teeth Thickened calvaria Curly hair Taurodontia Narrow forehead Fragile nails Dry hair Abnormality of the mastoid Obliteration of the calvarial diploe Brachydactyly Myopia Headache Hypermetropia Periorbital edema Recurrent streptococcus pneumoniae infections Muscle weakness Facial asymmetry Elevated urine pyrophosphate Phosphoethanolaminuria Syndactyly Midface retrusion Gait ataxia Mandibular prognathia Facial palsy Nail dysplasia Skin dimple over apex of long bone angulation Overgrowth Small nail Tetraparesis Increased intracranial pressure Hyperostosis Short finger Cutaneous finger syndactyly Sclerotic vertebral endplates Elevated plasma pyrophosphate Low alkaline phosphatase Muscular hypotonia Tapered finger Abnormality of cardiovascular system morphology Obesity Depressivity Pectus excavatum Pectus carinatum Wide nose Everted lower lip vermilion Psychosis Rachitic rosary Oligodontia Large hands Bipolar affective disorder Anodontia Motor delay Osteoporosis Proptosis Bowing of the legs Bifid nose



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