Abnormal facial shape, and Lumbar hyperlordosis

Diseases related with Abnormal facial shape and Lumbar hyperlordosis

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


Top matches:

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

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

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Other less relevant matches:

Medium match SMITH-MCCORT DYSPLASIA 2; SMC2


Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SMITH-MCCORT DYSPLASIA 2; SMC2

Medium 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

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C

Medium match ANAUXETIC DYSPLASIA


Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017).For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (OMIM ).

ANAUXETIC DYSPLASIA Is also known as spondyloepimetaphyseal dysplasia, menger type|spondyloepimetaphyseal dysplasia, anauxetic type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANAUXETIC DYSPLASIA

Medium match NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Medium match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE


Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE Is also known as semd, shohat type

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Lumbar hyperlordosis

Symptoms // Phenotype % cases
Hyperlordosis Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Severe short stature Uncommon - Between 30% and 50% cases
Pes planus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Joint laxity Long face Pain Intellectual disability Limited elbow extension Kyphosis Limb undergrowth Waddling gait Flexion contracture Metaphyseal irregularity Global developmental delay Short neck Arthralgia Midface retrusion Brachydactyly Coxa vara Difficulty running Difficulty climbing stairs Increased variability in muscle fiber diameter Frequent falls Pectus excavatum Facial palsy Kyphoscoliosis Spondyloepimetaphyseal dysplasia Platyspondyly High palate Muscle weakness Generalized hypotonia

Rare Symptoms - Less than 30% cases


Rhizomelia Genu valgum Pectus carinatum Mandibular prognathia Posteriorly rotated ears Flat acetabular roof Thoracic hypoplasia Hypoplasia of the odontoid process Myopia Ovoid vertebral bodies Disproportionate short stature Mild short stature Metaphyseal widening Motor delay Myopathy Slender build Skeletal dysplasia Delayed speech and language development Prominent forehead Thin vermilion border Micromelia Respiratory insufficiency Congestive heart failure Proximal muscle weakness Muscular dystrophy Macroglossia EMG: myopathic abnormalities Short femoral neck Hypertelorism Macrocephaly Delayed skeletal maturation Thoracic scoliosis Easy fatigability Gowers sign Depressed nasal bridge Gait disturbance Frontal bossing Falls Narrow chest Arthrogryposis multiplex congenita Distal muscle weakness Sensory impairment Retrognathia Dyspnea Respiratory failure Short ribs Generalized muscle weakness Open mouth Hoarse voice Decreased fetal movement Hypertonia Progressive muscle weakness Narrow face Delayed epiphyseal ossification Muscle stiffness Knee flexion contracture Respiratory insufficiency due to muscle weakness Congenital muscular dystrophy Abnormality of epiphysis morphology Myopathic facies Decreased muscle mass Centrally nucleated skeletal muscle fibers Pes cavus Genu varum Wormian bones Broad ribs Sparse hair Hypodontia Nail dysplasia Small nail Elbow flexion contracture Coxa valga Relative macrocephaly Cubitus valgus Cone-shaped epiphysis Short thorax Metaphyseal dysplasia Thoracolumbar scoliosis Hypoplastic ilia Thoracic kyphosis Shield chest Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Thoracolumbar kyphoscoliosis Increased vertebral height Hypoplasia of the femoral head Hypoplastic iliac body Flared metaphysis Cervical spine instability Muscular hypotonia Bell-shaped thorax Dysphagia Respiratory distress Neck muscle weakness Central vertebral hypoplasia Facial diplegia Overgrowth Growth delay Hepatomegaly Severe expressive language delay Upper airway obstruction Abnormality of the abdominal wall High forehead Vertebral hypoplasia Difficulty walking Prominent nasal bridge Arachnodactyly Abnormal cerebellum morphology Triangular face High myopia Narrow vertebral interpedicular distance Tall stature Sparse eyebrow Large hands Disproportionate tall stature Long fingers Megalencephaly Long foot Communicating hydrocephalus Metopic synostosis Expressive language delay Long neck Thick corpus callosum Macrotia Splenomegaly Vertebral compression fractures Cognitive impairment Narrow greater sacrosciatic notches Nemaline bodies Short femur Fibular overgrowth Distal lower limb amyotrophy Short iliac bones Distal lower limb muscle weakness Myokymia Shoulder girdle muscle atrophy Seizures Ataxia Low-set ears Downslanted palpebral fissures Hepatosplenomegaly Ventriculomegaly Hydrocephalus Abnormality of the ribs Malar flattening Round face Abdominal distention Absent speech Joint hyperflexibility Cerebellar hypoplasia Upslanted palpebral fissure Cerebral cortical atrophy Gait ataxia Proptosis Cerebellar atrophy Arrhythmia Reduced muscle fiber alpha sarcoglycan Limited elbow flexion Accelerated skeletal maturation Growth abnormality Back pain Broad hallux Proportionate short stature Joint swelling Exostoses Abnormality of tibia morphology Abnormality of the knee Low back pain Osteochondritis Dissecans Decreased hip abduction Quadriceps muscle atrophy Osteoarthritis Abnormality of skeletal physiology Abnormality of the skeletal system Coarse facial features Small hand Limitation of joint mobility Short metacarpal Decreased body weight Short phalanx of finger Short metatarsal Barrel-shaped chest Hypoplastic pelvis Disproportionate short-trunk short stature Myelopathy Short thumb Joint stiffness Thoracolumbar kyphosis Lower limb muscle weakness Flat face Short long bone Disproportionate short-limb short stature Bowing of the legs Enlarged joints Small epiphyses Irregular epiphyses Narrow iliac wings Hypoplastic pubic bone Posterior rib cupping Metaphyseal spurs Dysplastic iliac wings Mitral valve prolapse Arthritis Reduced tendon reflexes Poor head control Nasal speech Toe walking Generalized amyotrophy Aortic root aneurysm Lower limb amyotrophy Central hypoventilation Pes valgus Sinus tachycardia Abnormality of muscle fibers Reduced systolic function Fatiguable weakness of proximal limb muscles Broad femoral neck Flattened epiphysis Absent muscle fiber gamma sarcoglycan Achilles tendon contracture Pneumonia Unsteady gait Inability to walk Broad-based gait Scapular winging Limb-girdle muscular dystrophy Skeletal muscle hypertrophy Calf muscle hypertrophy Restrictive ventilatory defect Progressive proximal muscle weakness Right ventricular hypertrophy Upper limb muscle weakness Left ventricular failure Cardiomyopathy Restrictive deficit on pulmonary function testing Neck flexor weakness Muscle fiber atrophy Tip-toe gait Calf muscle pseudohypertrophy Muscle fiber necrosis Right ventricular dilatation Increased endomysial connective tissue Left ventricular systolic dysfunction Abnormal macrophage morphology EMG: myotonic runs EMG: positive sharp waves EMG: myotonic discharges Elevated serum creatine phosphokinase Skeletal muscle atrophy Broad phalanx Clinodactyly of the 5th finger Broad metatarsal Arthralgia of the hip Atlantoaxial instability Small forehead Flattened femoral head Hearing impairment Sensorineural hearing impairment Wide nasal bridge Talipes equinovarus Anteverted nares Syndactyly Clinodactyly Broad forehead Dislocation of the femoral head Finger syndactyly Hip dislocation Talipes Hip dysplasia Bilateral sensorineural hearing impairment Congenital hip dislocation Finger clinodactyly Bilateral talipes equinovarus Dislocated radial head Synostosis of carpal bones Lower limb asymmetry Acetabular dysplasia Shallow acetabular fossae Abnormal epiphyseal ossification



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