Frontal bossing, and Polydactyly

Diseases related with Frontal bossing and Polydactyly

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

Top matches:

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

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

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 5

Other less relevant matches:

Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 2

Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

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

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20

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

Symptoms // Phenotype % cases
Postaxial polydactyly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Toe syndactyly Abnormality of the pinna Ptosis Postaxial hand polydactyly Seizures Molar tooth sign on MRI Micrognathia Abnormality of the skeletal system Hydrocephalus Polymicrogyria Narrow chest Global developmental delay Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Rod-cone dystrophy Preaxial foot polydactyly Broad hallux phalanx Symphalangism affecting the phalanges of the hand Abnormality of fibula morphology Epicanthus Micropenis Turricephaly Low-set ears Short neck Deeply set eye Abnormality of cardiovascular system morphology Split foot Broad metatarsal Underdeveloped supraorbital ridges Midface retrusion Ataxia Cerebellar vermis hypoplasia 2-3 toe syndactyly Syndactyly Craniosynostosis Strabismus Encephalocele Mandibular prognathia Short metatarsal Proptosis Abnormal palate morphology Convex nasal ridge Hypoplasia of the maxilla Ectodermal dysplasia Stage 5 chronic kidney disease Cirrhosis Visceral angiomatosis Everted lower lip vermilion Genu valgum Limb undergrowth Pulmonic stenosis Fine hair Cholestasis Rhizomelia Cerebral ischemia Arteriovenous malformation Hepatic fibrosis Sandal gap Dry skin Abnormality of nervous system morphology Sparse hair Calcaneonavicular fusion Acanthosis nigricans Broad hallux Shallow orbits Anterior plagiocephaly Craniofacial dysostosis Hallux varus Short stature Joint laxity Headache Brachydactyly Malar flattening Telecanthus Asymmetric growth Epidermal acanthosis Renal insufficiency Microtia Cutis laxa Hypoplastic pubic bone Natal tooth Fibular hypoplasia Short tibia Thoracic dysplasia Complete atrioventricular canal defect Lateral clavicle hook Horizontal ribs Uterus didelphys Long thorax Short ribs Hamartoma of tongue Multiple skeletal anomalies Laryngeal hypoplasia Septate vagina Decreased calvarial ossification Large posterior fontanelle Absent nasal bridge Narrow sacroiliac notch Preaxial polydactyly Wide anterior fontanel Widely spaced teeth Broad nail Chronic kidney disease Nephronophthisis Scaphocephaly Hypoplasia of teeth Sagittal craniosynostosis Peripheral pulmonary artery stenosis Short nail Bilateral postaxial polydactyly 3-4 toe syndactyly Low posterior hairline Respiratory insufficiency Microphthalmia Brachycephaly Cleft lip Foot polydactyly Anal atresia Oral cleft Pulmonary hypoplasia Tetralogy of Fallot Nevus flammeus Thick vermilion border Telangiectasia of the skin Abdominal distention Anteverted nares Short nose Long philtrum Polyhydramnios Umbilical hernia Micromelia Flat face Hydrops fetalis Postaxial foot polydactyly Disproportionate short-limb short stature Thoracic hypoplasia Cystic hygroma Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Lethal skeletal dysplasia Femoral hernia Abnormal enchondral ossification Lobulated tongue Median cleft lip Hypospadias Oculomotor apraxia Nystagmus Abnormal facial shape Dysarthria Intellectual disability, mild Abnormal cerebellum morphology Apraxia Tall stature Large for gestational age Horseshoe kidney Elongated superior cerebellar peduncle Scoliosis Ventricular septal defect Abnormal heart morphology Agenesis of corpus callosum Cleft upper lip Bifid uvula Aganglionic megacolon Hearing impairment Patent ductus arteriosus Hypermelanotic macule High forehead Infra-orbital crease Neoplasm Failure to thrive Muscular hypotonia Optic atrophy Ventriculomegaly Arrhythmia Wide mouth Deep philtrum Finger syndactyly Facial asymmetry Joint hyperflexibility Full cheeks Arnold-Chiari malformation Hand polydactyly Aplasia/Hypoplasia of the cerebellum Cutis marmorata Enlarged cisterna magna Intellectual disability, profound Retrognathia Generalized hypotonia Renal cyst Heterotopia Exotropia Narrow palpebral fissure Sacral dimple Occipital encephalocele Anencephaly Growth delay Hirsutism Feeding difficulties Motor delay Wide nasal bridge Downslanted palpebral fissures Recurrent infections Absent speech EEG abnormality Feeding difficulties in infancy Esophageal diverticulum


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