Frontal bossing, and Camptodactyly of finger

Diseases related with Frontal bossing and Camptodactyly of finger

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

Top matches:

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Other less relevant matches:

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.

TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3 Is also known as sugio-kajii syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

CONGENITAL CONTRACTURAL ARACHNODACTYLY Is also known as distal arthrogryposis type 9|cca syndrome|contractural arachnodactyly, congenital|beals syndrome|beals-hecht syndrome|cca

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Micrognathia
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL CONTRACTURAL ARACHNODACTYLY

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.

CRANIOFRONTONASAL DYSPLASIA Is also known as cfnd|cfns|craniofrontonasal syndrome|craniofrontonasal dysostosis|craniofrontonasal dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFRONTONASAL DYSPLASIA

Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

EAR-PATELLA-SHORT STATURE SYNDROME Is also known as microtia, absent patellae, micrognathia syndrome|meier-gorlin syndrome|eps|ear, patella, short stature syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about EAR-PATELLA-SHORT STATURE SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Camptodactyly of finger

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Clinodactyly of the 5th finger

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Pectus carinatum

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Prominent forehead Brachydactyly Joint laxity Long philtrum Short nose Hearing impairment Hypertelorism Strabismus Short neck Short palm Syndactyly Growth delay Microcephaly Brachycephaly Anteverted nares Muscular hypotonia Agenesis of corpus callosum Plagiocephaly Wide nasal bridge Small hand Hemivertebrae Ventricular septal defect Generalized hypotonia Atrial septal defect Pectus excavatum Thin upper lip vermilion High forehead Abnormality of the dentition Abnormality of the pinna Camptodactyly Abnormality of the skeletal system Midface retrusion Severe short stature Short palpebral fissure Intrauterine growth retardation Retrognathia Arachnodactyly Joint hyperflexibility Abnormality of cardiovascular system morphology Narrow mouth Proptosis Hypospadias Cryptorchidism Craniosynostosis Abnormality of the ribs Clinodactyly Posteriorly rotated ears Talipes equinovarus Depressed nasal bridge Interphalangeal joint contracture of finger Talipes

Rare Symptoms - Less than 30% cases

Shawl scrotum Abnormality of the rib cage Micromelia Osteopenia Abnormally folded helix Delayed skeletal maturation Cutaneous finger syndactyly Smooth philtrum Malar flattening Triangular face Breast hypoplasia Myopia Increased number of teeth Fragile nails Avascular necrosis of the capital femoral epiphysis Short foot Epispadias Abnormal form of the vertebral bodies Long eyelashes Abnormal heart morphology Upslanted palpebral fissure Coxa valga Wide mouth Dolichocephaly Facial asymmetry Mitral valve prolapse Hypoplasia of penis Respiratory distress Specific learning disability Mild short stature High, narrow palate Wide nose Finger syndactyly Umbilical hernia Arthrogryposis multiplex congenita Patent ductus arteriosus Ventriculomegaly Joint contracture of the hand Bifid tongue Short ribs Hernia Patent foramen ovale Hypoplastic toenails Thoracic hypoplasia Thin ribs Megalocornea Ridged fingernail Epicanthus Hypoplastic labia minora Clitoral hypoplasia Slender finger Hypoplastic labia majora Failure to thrive Sensorineural hearing impairment Elbow dislocation Aortic root aneurysm Hyperlordosis Disproportionate tall stature Abnormal renal morphology Short philtrum Dental crowding Broad thumb Macrocephaly Abnormal vertebral morphology Intellectual disability, mild Dilatation Cleft upper lip Feeding difficulties Hypoplasia of the maxilla Toe syndactyly Protruding ear Hip dislocation Polydactyly Cleft lip Postnatal growth retardation Blepharophimosis Narrow chest Sandal gap Joint stiffness Deep philtrum Fibular hypoplasia Aortic aneurysm Seizures Flexion contracture Prominent nasal bridge Short chin Low-set, posteriorly rotated ears Capillary hemangioma Anotia Sacral dimple Breech presentation Curly eyelashes Abnormality of the gingiva Open bite Patellar aplasia Median cleft lip and palate Oligodontia Fingernail dysplasia Anodontia Unilateral cryptorchidism Hyperconvex nail Long palpebral fissure Femoral hernia Aplastic clavicle Aplasia/Hypoplasia of the patella Osteochondritis Dissecans Lateral clavicle hook Breast aplasia Gingival overgrowth Coxa vara Interrupted aortic arch Crumpled ear Patellar subluxation Iridodonesis Lens subluxation Spinal deformities Hypoplasia of the musculature Slender build Calf muscle hypoplasia Duodenal atresia Abnormally large globe Single umbilical artery Patellar dislocation Scaphocephaly Esophageal atresia Congenital kyphoscoliosis Ptosis Narrow nose Hip dysplasia Birth length less than 3rd percentile Mandibular aplasia Small anterior fontanelle Blue sclerae Abnormality of the patella Absent sternal ossification Hypodontia Absent glenoid fossa Short ear Downturned corners of mouth Microtia, third degree Flat glenoid fossa Incomplete partition of the cochlea type II Alopecia Inguinal hernia Abnormality of the penis Disproportionate short stature Euryblepharon Abnormality of hair texture Thick vermilion border Bifid uvula Decreased hip abduction Microdontia Midline defect of the nose Broad finger Thick lower lip vermilion Hip contracture Anterior plagiocephaly Aplasia/Hypoplasia of the nipples Bifid nasal tip Ridged nail Broad hallux phalanx Widow's peak Craniofacial asymmetry Congenital pseudoarthrosis of the clavicle Woolly hair Hemihypotrophy of lower limb Respiratory failure Dyspnea Gastroesophageal reflux Hypogonadism Hypoplastic nasal tip Split nail Duplication of the distal phalanx of the thumb Axillary pterygium Unilateral breast hypoplasia Therapeutic abortion Feeding difficulties in infancy Microtia Small for gestational age Genu valgum Joint hypermobility Thin skin Down-sloping shoulders Naevus flammeus of the eyelid Emphysema Low posterior hairline Congenital diaphragmatic hernia Webbed neck Oral cleft Telecanthus Bilateral talipes equinovarus Severe hearing impairment Encephalocele Slender long bone Micropenis Submucous cleft hard palate Hypoplasia of the corpus callosum Aseptic necrosis Nystagmus Onychogryposis of fingernail Depressed nasal ridge Exotropia Abnormality of epiphysis morphology Abnormality of digit Coronal craniosynostosis Abnormality of the clavicle Thickened nuchal skin fold Sprengel anomaly Increased body weight Curly hair Abnormality of the outer ear Pterygium Broad hallux Genu varum Abnormality of pelvic girdle bone morphology Atresia of the external auditory canal Bilateral cryptorchidism Hand polydactyly Clitoral hypertrophy Distal arthrogryposis Posterior rib cupping Ulnar deviation of finger Long nose Low frustration tolerance Velopharyngeal insufficiency Ascending tubular aorta aneurysm Impaired social interactions Macroorchidism Narrow nasal bridge Emotional lability Cat cry Obsessive-compulsive behavior Abnormality of the voice Nasal speech Schizophrenia Abnormality of the genitourinary system Aplasia/Hypoplasia of the corpus callosum Narrow face Oppositional defiant disorder Macrotia Anorexia Sparse eyelashes Long upper lip Leukonychia Sparse lateral eyebrow Exostoses Short finger Cone-shaped epiphysis Short metatarsal Sparse and thin eyebrow Abnormality of the nervous system Short phalanx of finger Convex nasal ridge Underdeveloped nasal alae Short metacarpal Short distal phalanx of finger Bulbous nose Sparse hair Hallucinations Open mouth Coxa magna Elbow ankylosis Abnormality of the hair Split hand Abnormality of the cardiovascular system Postaxial hand polydactyly Single transverse palmar crease Microphthalmia Narrow pelvis bone Anophthalmia Hypoplasia of the zygomatic bone Turricephaly Underdeveloped supraorbital ridges Femoral bowing Delayed cranial suture closure Choanal atresia Recurrent fractures Horseshoe kidney Tibial bowing Psychosis Cognitive impairment Long face Neurological speech impairment Attention deficit hyperactivity disorder Aggressive behavior Autism Hyperactivity Behavioral abnormality Fused fourth and fifth metacarpals Oligodactyly Camptodactyly of 2nd-5th fingers Metacarpal synostosis Foot oligodactyly Flared nostrils Hand oligodactyly Short femur Postaxial foot polydactyly Pear-shaped nose Accelerated bone age after puberty Keratoconus Shallow orbits Fatigue Motor delay Pain Abnormality of nervous system morphology Secundum atrial septal defect Ventricular extrasystoles Anteriorly placed anus Arrhythmia External genital hypoplasia Tricuspid regurgitation Rocker bottom foot Redundant skin Abnormality of vision Full cheeks Abnormality of the eye Kyphosis Kyphoscoliosis Pes planus Adducted thumb Abnormality of the musculature Decreased muscle mass Metatarsus adductus Tracheoesophageal fistula Clubbing Congenital contracture Ectopia lentis Bicuspid aortic valve Abnormal cardiac septum morphology Knee flexion contracture Elbow flexion contracture Bowing of the long bones Mitral regurgitation Intestinal malrotation Chest pain Vertigo Neonatal hypotonia Hydrocephalus Cone-shaped epiphyses of the middle phalanges of the hand High myopia Short long bone Hydrops fetalis Wide anterior fontanel Rhizomelia Omphalocele Abnormality of the metaphysis Limb undergrowth Bell-shaped thorax Round face Flat face Platyspondyly Skeletal dysplasia Respiratory insufficiency Cataract Shortening of all phalanges of fingers Protuberant abdomen Hearing abnormality Abnormal facial shape Narrow greater sacrosciatic notches Widely patent sagittal suture Posterior vertebral hypoplasia Widely patent coronal suture Pear-shaped vertebrae Broad ischia Dumbbell-shaped long bone Thin clavicles Broad long bones Hypoplastic scapulae Anterior rib cupping Long clavicles Hypoplastic ischia Abnormal diaphysis morphology Metaphyseal cupping Broad ribs Hypoplastic fingernail Morgagni diaphragmatic hernia


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