Flexion contracture, and Frontal bossing

Diseases related with Flexion contracture and Frontal bossing

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

Top matches:

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

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

Other less relevant matches:

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Flexion contracture
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION 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

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome|mpph syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|mpph|megalencephaly, mega corpus callosum, and complete lack of motor development

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Frontal bossing

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Short stature Camptodactyly Proptosis Relative macrocephaly Intellectual disability Depressed nasal bridge Long philtrum Narrow mouth Hip dislocation Prominent forehead Mitral regurgitation Motor delay Clinodactyly Low-set ears Cryptorchidism Talipes equinovarus Short nose

Rare Symptoms - Less than 30% cases

Joint hypermobility Seizures Cleft lip Brachycephaly Telecanthus Talipes Arachnodactyly Abnormal renal morphology Ventriculomegaly Skeletal dysplasia Pes planus Hernia Postaxial hand polydactyly Single transverse palmar crease Dental crowding Kyphosis Gingival overgrowth Joint dislocation Polydactyly High palate Hypoplasia of the corpus callosum Hydrocephalus Growth delay Micrognathia Pain Atrial septal defect Cataract Skeletal muscle atrophy Midface retrusion High forehead Anteverted nares Decreased body weight Cleft palate Hypospadias Delayed skeletal maturation Retrognathia Posteriorly rotated ears Triangular face Failure to thrive Strabismus Spasticity Dilation of lateral ventricles Conductive hearing impairment Abnormally large globe Microcephaly Scoliosis Megalencephaly Thoracic scoliosis Muscular hypotonia Otitis media Long palpebral fissure Abnormal localization of kidney Cortical dysplasia Hypertonia Behavioral abnormality Intellectual disability, mild Hyperactivity Glaucoma Autism Large for gestational age Infantile spasms Cavum septum pellucidum Vascular ring Depressed nasal tip Overgrowth Limb undergrowth Broad thumb Short phalanx of finger Increased bone mineral density Oligodontia Chronic otitis media Mesomelia Thickened calvaria Capillary malformation Wide mouth Generalized osteosclerosis Narrow naris Triangular mouth Dental malocclusion Mesomelic short stature Narrow nasal tip Otitis media with effusion Anxiety Abnormal nasal morphology Short distal phalanx of finger Gastroesophageal reflux Hip dysplasia Intellectual disability, moderate Tibial bowing Split hand Abnormal vertebral morphology Visual impairment Abnormality of the hair Horseshoe kidney Hemivertebrae Sandal gap Deep philtrum Anophthalmia Oligodactyly Thin upper lip vermilion Ptosis Fused fourth and fifth metacarpals Fibular hypoplasia Postaxial foot polydactyly Short femur Hand oligodactyly Flared nostrils Camptodactyly of 2nd-5th fingers Metacarpal synostosis Foot oligodactyly Short palpebral fissure Ventricular septal defect Autistic behavior Hallucinations Attention deficit hyperactivity disorder Arthrogryposis multiplex congenita Specific learning disability Knee flexion contracture Pachygyria Intellectual disability, profound Postaxial polydactyly Polymicrogyria Tetralogy of Fallot Abnormal cardiac septum morphology Schizophrenia Intellectual disability, severe Constrictive median neuropathy Syndactyly Microphthalmia Muscular hypotonia of the trunk Postnatal growth retardation Blepharophimosis Absent speech Toe syndactyly Cleft upper lip Blindness Abnormality of the cardiovascular system Arthralgia Umbilical hernia Choanal atresia Unilateral cryptorchidism Penoscrotal hypospadias Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Joint stiffness Craniosynostosis Camptodactyly of finger Narrow chest Recurrent fractures Abnormality of the ribs Delayed cranial suture closure Pterygium Femoral bowing Underdeveloped supraorbital ridges Turricephaly Hypoplasia of the zygomatic bone Narrow pelvis bone Elbow ankylosis Malar flattening Dilatation Platyspondyly Bifid uvula Melanocytic nevus Finger clinodactyly Aortic regurgitation Hepatitis Hepatomegaly Diarrhea Splenomegaly Diabetes mellitus Respiratory failure Hypothyroidism Autoimmunity Dolichocephaly Malabsorption Asthma Abnormal lung morphology Ambiguous genitalia Chronic diarrhea Type I diabetes mellitus Short chin Abnormal intestine morphology Prominent occiput Chronic lung disease Interstitial pneumonitis Feeding difficulties Patent ductus arteriosus Feeding difficulties in infancy Small hand Hypertrichosis Aortic aneurysm Micropenis Hyperextensible skin Inguinal hernia Myalgia Protruding ear Scarring Bruising susceptibility Generalized muscle weakness Mitral valve prolapse Blue sclerae Delayed gross motor development Adducted thumb Patent foramen ovale Myopathy Bilateral talipes equinovarus Fragile skin Facial hypotonia Hypoplasia of the musculature Hearing impairment Sensorineural hearing impairment Brachydactyly Wide nasal bridge Abnormality of the skeletal system Abnormality of the dentition Severe short stature Cerebral atrophy Muscle weakness Abnormality of the sternum Carcinoma Striae distensae Dilatation of the cerebral artery Aortic dissection Pulmonary artery aneurysm Cervical spine instability Neoplasm Pectus excavatum Abdominal pain Kyphoscoliosis Deeply set eye Prominent nasal bridge Fulminant hepatic failure Hepatic failure Bulbous nose Elbow flexion contracture Lipodystrophy Premature graying of hair Subcapsular cataract Hepatocellular carcinoma Posterior subcapsular cataract Thoracic kyphosis Down-sloping shoulders Thoracic kyphoscoliosis Thick corpus callosum


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