Abnormal facial shape, and Hip dislocation

Diseases related with Abnormal facial shape and Hip dislocation

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


Top matches:

Low match TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME


TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7|hecht-beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|hecht syndrome|dutch-kentucky syndrome

Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • Feeding difficulties


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

Low match EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2


The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Low 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

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Other less relevant matches:

Low 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

Low 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

Low 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

Low match TYPICAL NEMALINE MYOPATHY


Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about TYPICAL NEMALINE MYOPATHY

Low match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU


URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

Low 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

Low match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Hip dislocation

Symptoms // Phenotype % cases
Hypertelorism Uncommon - Between 30% and 50% cases
Congenital hip dislocation Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Hip dislocation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Global developmental delay Ventriculomegaly Genu valgum Pectus excavatum Generalized hypotonia Inguinal hernia Flexion contracture Prominent forehead Low-set ears Scoliosis Short stature Ptosis Pes planus Talipes equinovarus Micrognathia

Rare Symptoms - Less than 30% cases


Wide nasal bridge Kyphosis Hernia Motor delay Hallux valgus Malar flattening Clinodactyly Wide nose Elevated serum creatine phosphokinase Mitral regurgitation High palate Midface retrusion Polyhydramnios Finger syndactyly Osteoarthritis Joint dislocation Intellectual disability Hyperlordosis Overgrowth Hyperextensible skin Clinodactyly of the 5th finger Epiphyseal dysplasia Thoracic scoliosis Cutis laxa Osteopenia Feeding difficulties Syndactyly Camptodactyly Talipes Hip dysplasia Mild short stature Proptosis Arthrogryposis multiplex congenita Platyspondyly Sparse hair Posteriorly rotated ears Retrognathia Difficulty walking Hypertrophic cardiomyopathy Synophrys Carpal synostosis Everted lower lip vermilion Prominent nose Ventricular hypertrophy Prominent supraorbital ridges Joint contracture of the hand Abnormality of the voice Skeletal muscle hypertrophy Dysphagia Broad palm Eclabion Limited elbow movement Brachyturricephaly Hyperplasia of the maxilla Camptodactyly of toe Pes cavus Congestive heart failure Cardiomyopathy Hypokinesia Neonatal hypotonia Facial palsy Narrow chest Waddling gait Narrow face Foot dorsiflexor weakness Genu varum Increased variability in muscle fiber diameter Spinal rigidity Fatigable weakness of distal limb muscles Facial diplegia Nemaline bodies Limb-girdle muscle weakness Type 1 muscle fiber predominance Neck flexor weakness Axial muscle weakness Nocturnal hypoventilation Fatiguable weakness of proximal limb muscles Fatigable weakness of respiratory muscles Progressive pes cavus Broad nail Marked muscular hypertrophy Low posterior hairline Abnormality of the skeletal system Osteoporosis Macrotia Scarring Papule Bruising susceptibility Webbed neck Mitral valve prolapse Narrow palate Disproportionate tall stature Redundant skin Bilateral ptosis Atrophic scars Abnormality of the vasculature Thin eyebrow Knee dislocation Squared iliac bones Shoulder dislocation Ventral hernia Cryptorchidism Large for gestational age Pugilistic facies Short nose Dislocation of toes Microcephaly Growth delay Failure to thrive Muscular hypotonia Hypoplasia of the corpus callosum Cerebellar atrophy Behavioral abnormality Flared metaphysis Lissencephaly Hyperactivity Micropenis Autism Narrow mouth High forehead Attention deficit hyperactivity disorder Hypoplasia of penis Tall stature Pointed chin Mandibular prognathia Hyporeflexia Long upper lip Open mouth Hydrocephalus Diarrhea Absent speech Hypoglycemia Deeply set eye Poor speech Blue sclerae Narrow forehead Chronic diarrhea Abnormality of the musculature Metatarsus adductus Torticollis Tented upper lip vermilion Pyloric stenosis Facial hypotonia Congenital muscular torticollis Increased head circumference Hearing impairment Hammertoe Short finger Myopia Pain Cutaneous syndactyly of toes Kyphoscoliosis Obesity Flat face Cleft palate Agenesis of corpus callosum Tall chin Pectus carinatum Calcaneovalgus deformity Brain atrophy Strabismus Symphalangism affecting the phalanges of the hand Abnormality of epiphysis morphology Lymphedema Trismus Molar tooth sign on MRI Multiple epiphyseal dysplasia Enlarged joints Distal arthrogryposis Seizures Sensorineural hearing impairment Deep philtrum Myopathy Relative macrocephaly Dilatation Skeletal dysplasia Joint hypermobility Bifid uvula Hypertrichosis Abnormality of the foot Gingival overgrowth Aortic regurgitation Aortic aneurysm Shallow acetabular fossae Abnormality of the sternum Striae distensae Dilatation of the cerebral artery Aortic dissection Pulmonary artery aneurysm Cervical spine instability Decreased body weight Gait disturbance Respiratory insufficiency Dislocation of the femoral head Acetabular dysplasia Delayed speech and language development Bilateral sensorineural hearing impairment Cutaneous syndactyly Anteverted nares Craniofacial disproportion Limitation of joint mobility Muscle cramps Advanced ossification of carpal bones Broad forehead Thin vermilion border Lumbar hyperlordosis Lower limb asymmetry Rhizomelia Finger clinodactyly Coxa vara Bilateral talipes equinovarus Limited elbow extension Dislocated radial head Facial asymmetry Hypoplasia of the odontoid process Synostosis of carpal bones Bursitis



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