Frontal bossing, and Toe syndactyly

Diseases related with Frontal bossing and Toe syndactyly

In the following list you will find some of the most common rare diseases related to Frontal bossing and Toe 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

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

Other less relevant matches:

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

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

Medium match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

Top 5 symptoms//phenotypes associated to Frontal bossing and Toe syndactyly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
2-3 toe syndactyly Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Growth delay Brachydactyly Hypertelorism Prominent forehead Deeply set eye Low-set ears Seizures Depressed nasal bridge Macrocephaly Talipes equinovarus Epicanthus Downslanted palpebral fissures Midface retrusion High palate Hypoplasia of the maxilla

Rare Symptoms - Less than 30% cases

Dental crowding Stereotypy Abnormality of brain morphology Joint hypermobility Failure to thrive Synophrys Hyperactivity Hydrocephalus Abnormal facial shape Cleft palate Generalized hypotonia Abnormality of the skeletal system Craniosynostosis Micrognathia Polydactyly Telecanthus Postaxial hand polydactyly Fine hair Sandal gap Aggressive behavior Short palpebral fissure Brachycephaly Microphthalmia Long philtrum Attention deficit hyperactivity disorder Hypoplasia of teeth Broad metatarsal Delayed speech and language development Malar flattening Abnormality of fibula morphology Symphalangism affecting the phalanges of the hand Broad hallux phalanx Short foot Preaxial foot polydactyly Split foot Ptosis Turricephaly Scoliosis Muscular hypotonia Feeding difficulties Short metatarsal Proptosis Fibular hypoplasia Abnormal palate morphology Mandibular prognathia Underdeveloped supraorbital ridges Myopia Optic atrophy Convex nasal ridge Hemivertebrae Deep philtrum Anophthalmia Tibial bowing Oligodactyly Postaxial foot polydactyly Camptodactyly of 2nd-5th fingers Fused fourth and fifth metacarpals Abnormal renal morphology Short femur Metacarpal synostosis Foot oligodactyly Flared nostrils Horseshoe kidney Hand oligodactyly Anxiety Blepharophimosis Abnormality of the hair 2-4 toe cutaneous syndactyly Spinal cord compression 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 Short nose Abnormal vertebral morphology Posteriorly rotated ears Retrognathia Cleft lip Postnatal growth retardation Cognitive impairment Hip dislocation Cleft upper lip Single transverse palmar crease Abnormality of the cardiovascular system Split hand Pain Inguinal hernia Hepatomegaly Low-set, posteriorly rotated ears Prolonged prothrombin time Long hallux Spinal deformities Expressive language delay Microcephaly Cryptorchidism Ventricular septal defect Absent speech Hernia Clinodactyly of the 5th finger Hypogonadism Autistic behavior Periorbital fullness Short philtrum Broad nasal tip Tetralogy of Fallot Drooling Precocious puberty Unilateral renal agenesis Neurodevelopmental delay Gonadal dysgenesis Echolalia Severe expressive language delay Self-biting Abnormality of the mitochondrion Prolonged partial thromboplastin time Wide nasal bridge High, narrow palate Intellectual disability, mild Splenomegaly Abnormality of metabolism/homeostasis Basal ganglia calcification Abdominal pain Coarse facial features Hepatosplenomegaly Thin upper lip vermilion Elevated hepatic transaminase Developmental regression Smooth philtrum Macroglossia Upper airway obstruction Memory impairment Low posterior hairline Hoarse voice Generalized hirsutism Sleep apnea Hyperkinesis Cholelithiasis Thoracic hypoplasia Hypoplastic nipples Protuberant abdomen Episodic abdominal pain Dysostosis multiplex Narrow nose Underdeveloped nasal alae Long nose Visceral angiomatosis Arnold-Chiari malformation Hand polydactyly Aplasia/Hypoplasia of the cerebellum Cutis marmorata Hypermelanotic macule Telangiectasia of the skin Foot polydactyly Nevus flammeus Arteriovenous malformation Cerebral ischemia Abnormality of nervous system morphology Polymicrogyria Asymmetric growth Aplasia/Hypoplasia of the ulna Lower limb asymmetry Short 5th finger Headache Abnormality of the pinna Genu valgum Epidermal acanthosis Acanthosis nigricans Broad hallux Full cheeks Joint hyperflexibility Anterior plagiocephaly Hyperplasia of the maxilla Pectus carinatum Lumbar hyperlordosis Mitral regurgitation Abnormality of the genital system Motor delay Exotropia Narrow palate Self-injurious behavior Vertebral fusion Butterfly vertebrae Thoracic kyphoscoliosis Facial asymmetry Exaggerated median tongue furrow Neoplasm Unilateral ulnar hypoplasia Ventriculomegaly Postaxial oligodactyly Abnormality of cardiovascular system morphology Arrhythmia High forehead Aplasia/Hypoplasia of the fibula Wide mouth Finger syndactyly Shallow orbits Craniofacial dysostosis Hyperostosis Thin vermilion border Peripheral pulmonary artery stenosis Short nail Bilateral postaxial polydactyly Broad nail 3-4 toe syndactyly Cataract Abnormality of the dentition Clinodactyly Delayed skeletal maturation Narrow mouth Small hand Scaphocephaly Delayed eruption of teeth Microcornea Triangular face Dental malocclusion Gastroesophageal reflux Overgrowth Sparse scalp hair Large fontanelles Abnormality of dental enamel Sparse eyelashes Abnormality of dental morphology Sagittal craniosynostosis Nephronophthisis Hallux varus Dry skin Calcaneonavicular fusion Bilateral talipes equinovarus Renal insufficiency Rod-cone dystrophy Hemangioma Round face Joint laxity Sparse hair Narrow chest Pulmonic stenosis Stage 5 chronic kidney disease Chronic kidney disease Cirrhosis Postaxial polydactyly Everted lower lip vermilion Ectodermal dysplasia Limb undergrowth Cholestasis Rhizomelia Hepatic fibrosis Atrial septal defect Cutis laxa Widely spaced teeth Severe receptive language delay


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