Frontal bossing, and Hip dislocation

Diseases related with Frontal bossing and Hip dislocation

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


Top matches:

High match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


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

High match INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME


Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

High match MEESTER-LOEYS SYNDROME; MRLS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

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Other less relevant matches:

High match 17P13.3 MICRODUPLICATION SYNDROME


17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

High match DWARFISM WITH TALL VERTEBRAE


Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

High match BRITTLE CORNEA SYNDROME 1; BCS1


Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea SyndromeBrittle cornea syndrome-2 (BCS2 ) is caused by mutation in the PRDM5 gene (OMIM ) on chromosome 4q27.

BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly|dysgenesis mesodermalis corneae et sclerae|corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|eds6b, formerly|fragilitas oculi with joint hyperextensibility

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Epicanthus
  • Myopia
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about BRITTLE CORNEA SYNDROME 1; BCS1

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B


Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A


Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

High match 1Q21.1 MICRODUPLICATION SYNDROME


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

High match CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3


Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Top 5 symptoms//phenotypes associated to Frontal bossing and Hip dislocation

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Scoliosis Congenital hip dislocation Joint hypermobility Microcephaly Generalized hypotonia Malar flattening Failure to thrive Low-set ears Ventriculomegaly Hernia Muscular hypotonia Intrauterine growth retardation Inguinal hernia Strabismus Growth delay Midface retrusion Cutis laxa Pes planus Abnormality of the skeletal system Hydrocephalus Prominent forehead Autism Triangular face Postnatal growth retardation Myopia Seizures Motor delay Short neck

Rare Symptoms - Less than 30% cases


Hypoplasia of the corpus callosum Relative macrocephaly Mandibular prognathia Growth abnormality Hypospadias Long philtrum Anteverted nares Blue sclerae Pectus carinatum Agenesis of corpus callosum High palate Behavioral abnormality Redundant skin Large fontanelles Short nose Pectus excavatum Clinodactyly of the 5th finger Hyperactivity Short stature Narrow mouth Feeding difficulties Attention deficit hyperactivity disorder Disproportionate tall stature Premature skin wrinkling Hyperlordosis Aortic regurgitation Pointed chin Gastroesophageal reflux Osteopenia Autistic behavior High myopia Protruding ear Broad forehead Overgrowth Deeply set eye Talipes equinovarus Epicanthus Joint dislocation Cataract Joint laxity Glaucoma Molluscoid pseudotumors Micrognathia Osteoporosis Decreased corneal thickness Brachycephaly Spondylolisthesis Bowing of the long bones Keratoglobus Buphthalmos Dentinogenesis imperfecta Bulbous nose Hyperextensibility of the finger joints Recurrent fractures Hypoplasia of the maxilla Hypotelorism Red hair Palmoplantar cutis laxa Talipes valgus Prominent superficial veins Polymicrogyria Colpocephaly Thin skin Hip dysplasia Specific learning disability Tetralogy of Fallot Hallucinations Schizophrenia Constrictive median neuropathy Corneal opacity Congenital cataract Oligohydramnios Wormian bones Intellectual disability, moderate Spontaneous abortion Adducted thumb Unilateral renal agenesis Brisk reflexes Delayed cranial suture closure Reduced subcutaneous adipose tissue Spinal canal stenosis Calcaneovalgus deformity Dermal translucency Arthrogryposis multiplex congenita Anxiety Narrow nasal ridge Coarse hair Abnormal glycosylation Feeding difficulties in infancy Carious teeth Confusion Soft skin Flat face Dandy-Walker malformation Pachygyria Wide anterior fontanel Prominent supraorbital ridges Intellectual disability, mild Brittle hair Lipodystrophy Severe intrauterine growth retardation Oxycephaly Abnormal isoelectric focusing of serum transferrin Cryptorchidism Spasticity Atrial septal defect Hypertonia Atypical scarring of skin Thick eyebrow Megalocornea Proptosis Tented upper lip vermilion Pyloric stenosis Facial hypotonia Congenital muscular torticollis Increased head circumference Flexion contracture Dilatation Skeletal dysplasia Chronic diarrhea Camptodactyly Platyspondyly Bifid uvula Hypertrichosis Mitral regurgitation Gingival overgrowth Aortic aneurysm Torticollis Open mouth Striae distensae Abnormality of epiphysis morphology Obesity Clinodactyly Polyhydramnios Finger syndactyly Genu valgum Brain atrophy Osteoarthritis Lymphedema Narrow forehead Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Enlarged joints Diarrhea Absent speech Hypoglycemia Poor speech Abnormality of the sternum Dilatation of the cerebral artery Keratoconus Visual loss Short thorax Slender long bone Short 5th finger Hypoplastic pelvis Increased vertebral height Hearing impairment Abnormality of the dentition Scarring Scapular winging Talipes Retinal detachment Mitral valve prolapse Lumbar hyperlordosis Reduced bone mineral density Hyperextensible skin Increased susceptibility to fractures Hallux valgus Spina bifida occulta Coxa vara Aortic dissection Hypoplasia of penis Pulmonary artery aneurysm Cervical spine instability Wide nasal bridge Cerebellar atrophy Micropenis High forehead Wide nose Tall stature Short ribs Lissencephaly Large for gestational age Depressed nasal bridge Delayed skeletal maturation Severe short stature Small for gestational age Dolichocephaly Decreased testicular size Small foramen magnum



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