Abnormal facial shape, and Hyperlordosis

Diseases related with Abnormal facial shape and Hyperlordosis

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


Top matches:

Medium match THREE M SYNDROME 3; 3M3


The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (OMIM ).

THREE M SYNDROME 3; 3M3 Is also known as 3m syndrome 3

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Abnormality of the skeletal system
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about THREE M SYNDROME 3; 3M3

Medium match THREE M SYNDROME 2; 3M2


THREE M SYNDROME 2; 3M2 Is also known as 3m syndrome 2

Related symptoms:

  • Short stature
  • Frontal bossing
  • Anteverted nares
  • Short neck
  • Long philtrum


SOURCES: OMIM MESH MENDELIAN

More info about THREE M SYNDROME 2; 3M2

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE


Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE Is also known as semd, matrilin-3 type|semd, matn3-related

Related symptoms:

  • Short stature
  • Pectus excavatum
  • Severe short stature
  • Hyperlordosis
  • Platyspondyly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 TYPE

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Other less relevant matches:

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Medium match CAP MYOPATHY


Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

Medium match FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Medium match MUCOLIPIDOSIS TYPE III GAMMA


Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

Medium match OSTEOGENESIS IMPERFECTA TYPE 5


Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 5 Is also known as oi type 5|oi, type v

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 5

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Hyperlordosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Broad forehead Pes planus Platyspondyly Pectus excavatum Pain Scoliosis Myopia Triangular face Anteverted nares Lumbar hyperlordosis

Rare Symptoms - Less than 30% cases


Limb undergrowth Long face Global developmental delay Skeletal dysplasia Hearing impairment Limited elbow extension Intellectual disability Strabismus Osteoarthritis Feeding difficulties Macrocephaly Waddling gait Hyperactivity Flat face Abnormality of the skeletal system Long philtrum Malar flattening Joint stiffness Protruding ear Kyphosis Dolichocephaly Arthralgia Pointed chin Gastroesophageal reflux Brachydactyly Short thorax Micromelia Slender long bone Thin upper lip vermilion Severe short stature Abnormality of the hand Aortic regurgitation Abnormality of metabolism/homeostasis Flat capital femoral epiphysis Abnormality of the dentition Increased serum beta-hexosaminidase Abnormality of the rib cage Spondyloepiphyseal dysplasia Dysostosis multiplex Increased serum iduronate sulfatase activity Flared iliac wings Decreased hip abduction Opacification of the corneal stroma Low back pain Mild short stature Broad hallux Disproportionate short stature Proportionate short stature Joint swelling Exostoses Abnormality of tibia morphology Abnormality of the knee Osteochondritis Dissecans Aortic valve stenosis Limited elbow flexion Quadriceps muscle atrophy Abnormality of skeletal physiology Flexion contracture Intellectual disability, mild Coarse facial features Pectus carinatum Genu valgum Cardiomegaly Narrow mouth Mixed hearing impairment Mandibular prognathia Anxiety Delayed speech and language development Fever Atrial septal defect Vomiting Behavioral abnormality Constipation Posteriorly rotated ears Autism Low-set, posteriorly rotated ears Hyperplastic callus formation Autistic behavior Wide mouth Attention deficit hyperactivity disorder Hypermetropia Small hand Short foot Small nail Broad-based gait Low-set ears Anterior radial head dislocation Osteopenia Relative macrocephaly Abnormality of the eye Joint hypermobility Recurrent fractures Round face Blue sclerae Rhizomelia Wormian bones Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Dense metaphyseal bands Growth abnormality Dislocated radial head Barrel-shaped chest Vertebral compression fractures Dentinogenesis imperfecta Biconcave vertebral bodies Vertebral wedging Limited pronation/supination of forearm Thin calvarium Back pain Generalized amyotrophy Accelerated skeletal maturation Deeply set eye Posterior rib cupping Metaphyseal spurs Dysplastic iliac wings Seizures Failure to thrive Cognitive impairment Tremor Microtia Narrow iliac wings Neurological speech impairment Poor speech Generalized myoclonic seizures Delayed myelination Focal-onset seizure Delayed gross motor development Postnatal macrocephaly Hypoplastic pubic bone Irregular epiphyses Nystagmus Prominent calcaneus Clinodactyly Small for gestational age Hip dysplasia Increased vertebral height Thick vermilion border Scapular winging Prominent nasal tip Short long bone Small epiphyses Disproportionate short-limb short stature Metaphyseal widening Bowing of the legs Thoracic hypoplasia Flat acetabular roof Ovoid vertebral bodies Spondyloepimetaphyseal dysplasia Enlarged joints Hypertelorism Cleft palate Short thumb Central hypoventilation Increased variability in muscle fiber diameter Growth delay Difficulty climbing stairs Difficulty running Thoracic scoliosis Aortic root aneurysm Lower limb amyotrophy Pes valgus Gowers sign Sinus tachycardia Abnormality of muscle fibers Reduced systolic function Fatiguable weakness of proximal limb muscles Depressed nasal bridge Gait disturbance Delayed skeletal maturation Arthritis Toe walking Nasal speech Cataract Muscle weakness Talipes equinovarus Glaucoma Narrow chest Retinal detachment Limitation of joint mobility Abnormality of epiphysis morphology Coxa vara High palate Easy fatigability Motor delay Myopathy Facial palsy Lower limb muscle weakness Mitral valve prolapse Frequent falls Reduced tendon reflexes Poor head control Obsessive-compulsive behavior



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Postaxial polydactyly, related diseases and genetic alterations Myopia and Waddling gait, related diseases and genetic alterations Obesity and Upslanted palpebral fissure, related diseases and genetic alterations Cryptorchidism and Meningitis, related diseases and genetic alterations Cataract and Severe global developmental delay, related diseases and genetic alterations Scoliosis and Severe global developmental delay, related diseases and genetic alterations

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