Frontal bossing, and Genu valgum

Diseases related with Frontal bossing and Genu valgum

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


Top matches:

High match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

High 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

High 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

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Other less relevant matches:

High match JACKSON-WEISS SYNDROME; JWS


JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

High match CLEIDOCRANIAL DYSPLASIA; CCD


The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.

CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA; CCD

High match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

High match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

High match SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS


Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

High match CARPENTER SYNDROME


Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARPENTER SYNDROME

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

Top 5 symptoms//phenotypes associated to Frontal bossing and Genu valgum

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Cleft palate Malar flattening Abnormality of the skeletal system Abnormality of epiphysis morphology Osteoarthritis Abnormal facial shape Brachydactyly Anteverted nares Abnormality of the dentition Scoliosis Micrognathia Skeletal dysplasia Genu varum Coxa vara Hearing impairment Brachycephaly Muscle weakness Epiphyseal dysplasia Clinodactyly Macrocephaly Short neck Kyphoscoliosis Joint dislocation Epicanthus Pectus excavatum Mandibular prognathia Global developmental delay

Rare Symptoms - Less than 30% cases


Hypoplasia of the maxilla Narrow chest Pes planus Proptosis Kyphosis Syndactyly Growth delay Preaxial foot polydactyly Delayed eruption of teeth Turricephaly Craniosynostosis High, narrow palate Hypoplastic frontal sinuses Otitis media Hypoplasia of the zygomatic bone Camptodactyly Talipes equinovarus Atrial septal defect Intellectual disability, mild Short nose Platyspondyly Generalized hypotonia Abnormal sacrum morphology Abnormality of the thumb Osteoporosis Recurrent otitis media Sensorineural hearing impairment High palate Wide nasal bridge Absent frontal sinuses Hypoplastic scapulae Short clavicles Increased number of teeth Thickened calvaria Wormian bones Sparse and thin eyebrow Strabismus Large fontanelles Motor delay Hip dislocation Obesity Gait disturbance Abnormal joint morphology Pectus carinatum Finger syndactyly Micromelia Recurrent fractures Irregular epiphyses Small epiphyses Hypoplasia of the capital femoral epiphysis Arthralgia Multiple epiphyseal dysplasia Flared metaphysis Metaphyseal irregularity Dislocated radial head Abnormal vitreous humor morphology Thoracic scoliosis Tracheomalacia Irregular vertebral endplates Soft skin Calcification of falx cerebri Thoracolumbar scoliosis Depressivity Delayed epiphyseal ossification Inspiratory stridor Narrow femoral neck Slender metacarpals Posterior scalloping of vertebral bodies Abnormality of the patella Large joint dislocations Narrow vertebral interpedicular distance Laryngotracheomalacia Abnormal bone ossification Laryngeal stenosis Spinal dysraphism Stridor Flat capital femoral epiphysis Thoracolumbar kyphosis Enlarged thorax Broad distal phalanx of finger Carpal bone hypoplasia Generalized osteoporosis Spondyloepimetaphyseal dysplasia Upper airway obstruction Generalized joint laxity Macrodontia of permanent maxillary central incisor Broad nasal tip Short long bone Upper limb muscle weakness Abnormality of the nares Overbite Mood swings Upper limb spasticity Speech apraxia Spastic dysarthria Dysuria Premature loss of teeth Abnormal hand morphology Ankle contracture Cerebellar vermis atrophy Scleroderma Ankle clonus Spastic diplegia Hammertoe Impaired vibratory sensation Emotional lability Abnormality of brain morphology Knee clonus Congenital hip dislocation Elevated serum creatine phosphokinase Nail dysplasia Wide nose Irregular proximal tibial epiphyses Talipes Joint hyperflexibility Irregular distal femoral epiphysis Joint laxity Wide tufts of distal phalanges Panic attack Small proximal tibial epiphyses Meningeal calcification Muscular hypotonia Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Lens luxation Abnormal calcification of the carpal bones Delayed patellar ossification External genital hypoplasia Abnormality of the skull Esotropia Cerebral calcification Shawl scrotum Hypoplastic nipples Cutaneous finger syndactyly Transposition of the great arteries Supernumerary nipple Cloverleaf skull Dextrocardia Bilateral cryptorchidism High myopia Thick lower lip vermilion Sparse scalp hair Amblyopia Trigonocephaly Hypohidrosis Polysplenia Oxycephaly Preaxial polydactyly Flat face Glaucoma Long philtrum Sparse hair Myopia Hypotrichosis Visual impairment Congenital cataract Retinal detachment Abnormal cornea morphology Cataract Bifid uvula Ectodermal dysplasia Nystagmus Abnormal reproductive system morphology Aplasia of the middle phalanx of the hand Narrow naris Diaphragmatic eventration Coxa valga Sparse eyelashes Streaky metaphyseal sclerosis Anhidrotic ectodermal dysplasia Polydactyly Upslanted palpebral fissure Patent ductus arteriosus Hernia Abnormality of cardiovascular system morphology Hypoplastic ilia Concave nasal ridge Cryptorchidism Retrognathia Ulnar bowing Delayed phalangeal epiphyseal ossification Long proximal phalanx of finger Long distal phalanx of finger Slender distal phalanx of finger Caudal interpedicular narrowing Slender proximal phalanx of finger Hyperhidrosis Micropenis Umbilical hernia Ectopia lentis Broad thumb Sparse eyebrow Cutis laxa Aplasia cutis congenita Pierre-Robin sequence Narrow palate Slurred speech Situs inversus totalis Postaxial hand polydactyly Protruding ear Wide intermamillary distance Webbed neck Vitreoretinopathy Radial bowing Highly arched eyebrow Postaxial polydactyly Toe syndactyly Thick upper lip vermilion Abnormality of the hand Skeletal muscle atrophy Drooling Split foot Hallux varus Broad metatarsal Craniofacial dysostosis Anterior plagiocephaly Abnormality of fibula morphology Symphalangism affecting the phalanges of the hand Broad hallux phalanx Shallow orbits Respiratory distress Underdeveloped supraorbital ridges Broad hallux 2-3 toe syndactyly Short metatarsal Abnormal palate morphology Acanthosis nigricans Epidermal acanthosis Convex nasal ridge Calcaneonavicular fusion Intellectual disability, moderate Headache Abnormality of the clavicle Delayed eruption of permanent teeth Cervical ribs Aplastic clavicle Short middle phalanx of the 5th finger Spondylolisthesis Osteolytic defects of the phalanges of the hand Hypoplastic iliac wing Cone-shaped epiphyses of the phalanges of the hand Dental malocclusion Syringomyelia Short femoral neck Neonatal respiratory distress Cone-shaped epiphysis Increased susceptibility to fractures Short ribs Increased bone mineral density Hypoplasia of dental enamel Abnormality of the pinna Hydrocephalus Delayed eruption of primary teeth Proximal muscle weakness Osteochondritis Dissecans Mild short stature Hip dysplasia Waddling gait Limitation of joint mobility Hypodontia Short palm Myopathy Knee osteoarthritis Pain Enlarged joints Molar tooth sign on MRI Lymphedema Brain atrophy Polyhydramnios Agenesis of corpus callosum Inguinal hernia Flattened epiphysis Ankle pain Ptosis Hypophosphatemia Abnormal adipose tissue morphology Abnormal bone structure Rough bone trabeculation Premature loss of primary teeth Bone cyst Osteomalacia Hyperparathyroidism Abnormality of the hip bone Abnormality of the thorax Alopecia Osteolysis Hypocalcemia Bone pain Nephrolithiasis Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormality of the skin Dolichocephaly Parietal foramina Parietal bossing Spastic paraparesis Babinski sign Spastic paraplegia Anxiety Hydronephrosis Difficulty walking Gait ataxia Pes cavus Constipation Behavioral abnormality Paraplegia Cerebellar atrophy Dysphagia Downslanted palpebral fissures Dysarthria Hyperreflexia Delayed speech and language development Flexion contracture Cognitive impairment Abnormality of the foot Lower limb muscle weakness Failure to thrive Psychosis Hoarse voice Clonus Spastic gait Hallucinations Progressive muscle weakness Lower limb spasticity Choreoathetosis Overgrowth Dysmetria Specific learning disability Prominent nose Gliosis Abnormal cerebellum morphology Sleep disturbance Short foot Distal amyotrophy Joint hypermobility Spasticity Microcephaly Moderately short stature Clinodactyly of the 5th finger Sinusitis Abnormality of the ribs Sloping forehead Tapered finger Carious teeth Broad forehead Recurrent respiratory infections Abnormal facility in opposing the shoulders Abnormality of dental enamel Long second metacarpal Persistent open anterior fontanelle Wide pubic symphysis Delayed pubic bone ossification Absent paranasal sinuses Short middle phalanx of the 2nd finger Large foramen magnum Spondylolysis Hemivertebrae Spina bifida occulta Neck muscle hypoplasia Dystrophic toenail Cervical segmentation defect Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Rib segmentation abnormalities Cervical C2/C3 vertebral fusion Dimple chin Dystrophic fingernails Decreased skull ossification Sleep apnea Down-sloping shoulders Hearing abnormality Glossoptosis Sprengel anomaly Open bite Chronic otitis media Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Small distal femoral epiphysis



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