Hypertelorism, and Hip dislocation

Diseases related with Hypertelorism and Hip dislocation

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

Top matches:

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

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

X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE

Other less relevant matches:

EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

High match STEEL SYNDROME

Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).

STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about STEEL SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

High match 3MC SYNDROME

3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC 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

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

PYCR1-RELATED DE BARSY SYNDROME Is also known as pycr1 deficiency|pyrroline-5-carboxylate reductase 1 deficiency|de barsy syndrome b

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYCR1-RELATED DE BARSY SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Hip dislocation

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Frontal bossing Downslanted palpebral fissures Flexion contracture Strabismus Ventriculomegaly Microcephaly Deeply set eye Short stature Talipes equinovarus Pes planus Prominent forehead Delayed speech and language development Hearing impairment Seizures Congenital hip dislocation Low-set ears Inguinal hernia Motor delay

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Clinodactyly Obesity Growth delay Malar flattening Short neck Pyloric stenosis Clinodactyly of the 5th finger Midface retrusion Hernia Thin vermilion border Wide nasal bridge Overgrowth Pain Downturned corners of mouth Muscular hypotonia Absent speech Ptosis Hyperlordosis Finger syndactyly Genu valgum Myopia Kyphosis Hyperactivity Lumbar hyperlordosis Blepharophimosis Joint dislocation Radioulnar synostosis Hypoplasia of the corpus callosum Oral cleft Micropenis Autism Narrow mouth High forehead Attention deficit hyperactivity disorder Wide nose Hypoplasia of penis Tall stature Short nose Failure to thrive Behavioral abnormality Abnormal anterior chamber morphology Highly arched eyebrow Spina bifida occulta Craniosynostosis Abnormality of the pinna Postnatal growth retardation Bilateral cryptorchidism Supernumerary nipple Diastasis recti Telecanthus Abnormal nasal morphology Cerebellar atrophy Epicanthus inversus Caudal appendage Lissencephaly Large fleshy ears Limited pronation/supination of forearm Prominent coccyx Umbilical hernia Cervical spine instability Pulmonary artery aneurysm High palate Pointed chin Retinal dystrophy Large for gestational age Sparse hair Structural foot deformity Exophoria Delayed peripheral myelination Abnormality of the musculature of the lower limbs Absent pubertal growth spurt Focal myoclonic seizures Cryptorchidism Intrauterine growth retardation Posteriorly rotated ears Osteoporosis Glaucoma Underdeveloped nasal alae Cerebral white matter atrophy Blue sclerae Fine hair Thin skin Large fontanelles Elbow flexion contracture Narrow palpebral fissure Cutis laxa Athetosis Congenital glaucoma Excessive wrinkled skin Narrow nasal ridge Puberty and gonadal disorders Overweight Disproportionate tall stature Abnormality of the foot Ataxia Spasticity Dysarthria Abnormality of the skeletal system Dystonia Cerebral atrophy Difficulty walking Muscular hypotonia of the trunk Developmental regression Spastic paraplegia Generalized tonic-clonic seizures Paraplegia Progressive spastic paraplegia Unsteady gait Inability to walk Dilatation of the cerebral artery Generalized myoclonic seizures Delayed myelination Urinary incontinence Waddling gait Tetraparesis Broad-based gait Lower limb spasticity Fasciculations Aortic dissection Bilateral talipes equinovarus Striae distensae Ventricular septal defect Epicanthus Intellectual disability, severe Gastroesophageal reflux Hirsutism Small hand Short foot Intellectual disability, profound Bruxism Muscle weakness Cardiomyopathy Increased head circumference Atrial septal defect Myopathy Congestive heart failure Arrhythmia Elevated serum creatine phosphokinase Neonatal hypotonia Facial palsy Abnormal cardiac septum morphology Muscular dystrophy Depressed nasal bridge Congenital muscular torticollis Arthrogryposis multiplex congenita Molar tooth sign on MRI Pectus excavatum Agenesis of corpus callosum Polyhydramnios Pectus carinatum Brain atrophy Osteoarthritis Abnormality of epiphysis morphology Lymphedema Epiphyseal dysplasia Multiple epiphyseal dysplasia Facial hypotonia Enlarged joints Hydrocephalus Diarrhea Hypoglycemia Poor speech Narrow forehead Open mouth Chronic diarrhea Torticollis Tented upper lip vermilion Dilated cardiomyopathy Generalized muscle weakness Abnormality of the sternum Proptosis Dislocated radial head Thoracic scoliosis Hypoplasia of the odontoid process Synostosis of carpal bones Lower limb asymmetry Acetabular dysplasia Shallow acetabular fossae Dislocation of the femoral head Dilatation Skeletal dysplasia Mild short stature Camptodactyly Platyspondyly Joint hypermobility Bifid uvula Hypertrichosis Mitral regurgitation Gingival overgrowth Aortic regurgitation Relative macrocephaly Aortic aneurysm Limited elbow extension Coxa vara Webbed neck Left ventricular noncompaction Knee flexion contracture Congenital muscular dystrophy Calf muscle hypertrophy Myopathic facies Difficulty climbing stairs Centrally nucleated skeletal muscle fibers Difficulty running Ankle contracture Cleft soft palate Abnormal levels of creatine kinase in blood Finger clinodactyly Increased endomysial connective tissue Minicore myopathy Mitochondrial depletion Anteverted nares Syndactyly Broad forehead Talipes Hip dysplasia Bilateral sensorineural hearing impairment Rhizomelia Dermal translucency


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