Frontal bossing, and Syndactyly

Diseases related with Frontal bossing and Syndactyly

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

Top matches:

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.

JACKSON-WEISS SYNDROME Is also known as craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|jws

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Ptosis
  • Frontal bossing
  • Midface retrusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACKSON-WEISS SYNDROME

Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017).For a discussion of genetic heterogeneity of VCRL, see VCRL1 (OMIM ).

CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME Is also known as congenital nad deficiency disorder|congenital nad deficiency disorder 2|kynureninase deficiency, complete

Related symptoms:

  • Microcephaly
  • Low-set ears
  • Delayed speech and language development
  • Frontal bossing
  • Syndactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME

Other less relevant matches:

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

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

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

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

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

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

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

Symptoms // Phenotype % cases
Toe syndactyly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Abnormality of the skeletal system Malar flattening Strabismus Low-set ears 2-3 toe syndactyly Intellectual disability Mandibular prognathia Hypoplasia of the maxilla

Rare Symptoms - Less than 30% cases

Muscular hypotonia Hypoplasia of teeth Narrow chest Global developmental delay Rhizomelia Chronic kidney disease Micrognathia Genu valgum Facial asymmetry Pectus carinatum Dental malocclusion Overgrowth Finger syndactyly Telecanthus Dental crowding Depressed nasal bridge Motor delay Clinodactyly Optic atrophy Myopia Hyperostosis Failure to thrive Fine hair Brachydactyly Ptosis Proptosis Convex nasal ridge Abnormal palate morphology Short metatarsal Underdeveloped supraorbital ridges Turricephaly Split foot Preaxial foot polydactyly Broad hallux phalanx Symphalangism affecting the phalanges of the hand Abnormality of fibula morphology Hydrocephalus Broad metatarsal Short foot Deeply set eye Craniosynostosis Renal insufficiency Postaxial polydactyly Broad hallux Postaxial hand polydactyly Limb undergrowth Acanthosis nigricans Epidermal acanthosis Cholestasis Anterior plagiocephaly Ectodermal dysplasia Abnormality of the pinna Craniofacial dysostosis Everted lower lip vermilion Headache Cirrhosis Asymmetric growth Stage 5 chronic kidney disease Dry skin Pulmonic stenosis Sparse hair Hallux varus Calcaneonavicular fusion Joint laxity Cleft palate Cerebral ischemia Polydactyly Visceral angiomatosis Rod-cone dystrophy Abnormality of nervous system morphology Shallow orbits Abnormality of the dentition Hepatic fibrosis Narrow nose Underdeveloped nasal alae Short palpebral fissure Sparse scalp hair Large fontanelles Abnormality of dental enamel Sparse eyelashes Abnormality of dental morphology Long nose Basal ganglia calcification Spinal cord compression Microcornea Mild global developmental delay Large earlobe Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly Triangular face Delayed eruption of teeth Sandal gap 3-4 toe syndactyly Cutis laxa Widely spaced teeth Nephronophthisis Scaphocephaly Sagittal craniosynostosis Peripheral pulmonary artery stenosis Short nail Bilateral postaxial polydactyly Broad nail Cataract Small hand Epicanthus Downslanted palpebral fissures Nevus flammeus Long philtrum Microphthalmia Delayed skeletal maturation Brachycephaly Narrow mouth Thin vermilion border Arteriovenous malformation Vertebral fusion Foot polydactyly Short finger Gait disturbance Gait ataxia Facial palsy Nail dysplasia Small nail Tetraparesis Increased intracranial pressure Cutaneous finger syndactyly Restrictive deficit on pulmonary function testing Sclerotic vertebral endplates Abnormal facial shape Short neck Obesity Pectus excavatum Inguinal hernia Agenesis of corpus callosum Polyhydramnios Hearing impairment Hypoplastic left heart Brain atrophy Short 5th finger Growth delay Talipes equinovarus Atrial septal defect Prominent forehead Round face Hemangioma Bilateral talipes equinovarus Fibular hypoplasia Lower limb asymmetry Hemivertebrae Aplasia/Hypoplasia of the ulna Aplasia/Hypoplasia of the fibula Postaxial oligodactyly Unilateral ulnar hypoplasia Microcephaly Patent ductus arteriosus Talipes Renal hypoplasia Hip dislocation Osteoarthritis Telangiectasia of the skin High forehead Thoracic kyphoscoliosis Abnormality of brain morphology Exaggerated median tongue furrow Neoplasm Ventriculomegaly Abnormality of cardiovascular system morphology Arrhythmia Wide mouth Butterfly vertebrae Joint hyperflexibility Polymicrogyria Full cheeks Arnold-Chiari malformation Hand polydactyly Aplasia/Hypoplasia of the cerebellum Cutis marmorata Hypermelanotic macule Hyperplasia of the maxilla Self-injurious behavior Abnormality of epiphysis morphology Feeding difficulties Lymphedema Joint dislocation Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Enlarged joints Seizures Scoliosis Gastroesophageal reflux Narrow palate Anxiety Aggressive behavior Attention deficit hyperactivity disorder Lumbar hyperlordosis Mitral regurgitation Abnormality of the genital system Stereotypy Exotropia 2-4 toe cutaneous syndactyly


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