Anemia, and Lumbar hyperlordosis

Diseases related with Anemia and Lumbar hyperlordosis

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


Top matches:

Medium match ANAUXETIC DYSPLASIA 1; ANXD1


Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

Medium match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Medium match CAMURATI-ENGELMANN DISEASE


Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

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Other less relevant matches:

Medium match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Low match SECKEL SYNDROME 1; SCKL1


Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Low match WOLCOTT-RALLISON SYNDROME


Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Top 5 symptoms//phenotypes associated to Anemia and Lumbar hyperlordosis

Symptoms // Phenotype % cases
Hyperlordosis Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Lumbar hyperlordosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Severe short stature Abnormality of the skeletal system Skeletal dysplasia Brachydactyly Abnormality of epiphysis morphology Neoplasm Rhizomelia Depressed nasal bridge Abnormality of pelvic girdle bone morphology Pain Platyspondyly Hepatomegaly Diarrhea Recurrent infections Thrombocytopenia Immunodeficiency Pneumonia Flexion contracture Hypothyroidism Cognitive impairment Midface retrusion Micromelia Splenomegaly Motor delay Blue sclerae Delayed skeletal maturation Abnormal lung morphology Hip dislocation Neutropenia Global developmental delay Cellular immunodeficiency Hepatosplenomegaly Frontal bossing Intrauterine growth retardation Hypertension Seizures Abnormal form of the vertebral bodies Epiphyseal dysplasia Spondyloepiphyseal dysplasia Short toe Abnormality of the metaphysis Brachycephaly Metaphyseal dysplasia Lymphoma Leukemia Short neck

Rare Symptoms - Less than 30% cases


Limited elbow extension Prominent nose Abnormality of the vertebral column Recurrent fractures Microdontia Myeloid leukemia Tinnitus Coxa valga Fine hair Bone marrow hypocellularity Increased bone mineral density Bone pain Proptosis Waddling gait Generalized joint laxity Lymphopenia Narrow palate Cone-shaped epiphyses of the phalanges of the hand Genu valgum Carious teeth Pes planus Overweight Wormian bones Exocrine pancreatic insufficiency Abnormality of the nervous system Hypoplasia of the odontoid process Tibial bowing Delayed eruption of teeth Malabsorption Nephropathy Neonatal short-limb short stature Microcephaly Weight loss Obesity Scarring Joint hyperflexibility Micrognathia Malar flattening Hyperactivity Hydrocephalus Osteoporosis Macrocephaly Myopia High forehead Sleep apnea Triangular face High palate Thoracolumbar kyphosis Disproportionate short-limb short stature Genu varum Back pain Cardiomyopathy Abnormality of the dentition Renal insufficiency Upslanted palpebral fissure Osteopenia Abnormal diaphysis morphology Apnea Abnormality of femur morphology Multiple epiphyseal dysplasia Osteopetrosis Muscular hypotonia Atlantoaxial dislocation Disproportionate short stature Mucopolysacchariduria Thoracic kyphosis Strabismus Small epiphyses Prominent forehead Hypoplasia of the capital femoral epiphysis Hypermelanotic macule Shallow acetabular fossae Abnormal T cell morphology Combined immunodeficiency Cervical cord compression Flared metaphysis Postural instability Spasticity Nephritis Low-set ears Encephalitis Headache Arthralgia Epicanthus Autoimmunity Recurrent otitis media Convex nasal ridge Hepatitis Irregular vertebral endplates Ovoid vertebral bodies Barrel-shaped chest Tetraplegia Hypertelorism Gait disturbance Steatorrhea Respiratory insufficiency Abnormal facial shape Intellectual disability, mild Mandibular prognathia Hearing impairment Kyphoscoliosis Hypotrichosis Short thorax Hypodontia B-cell lymphoma Narrow chest Metaphyseal irregularity Metaphyseal widening Elbow flexion contracture Abnormality of the face Craniosynostosis Short distal phalanx of finger Joint hypermobility Decreased antibody level in blood Small nail Abnormality of the skin Gastrointestinal hemorrhage Growth hormone deficiency Arthrogryposis multiplex congenita Absent pubertal growth spurt Pulmonary lymphoma Impaired lymphocyte transformation with phytohemagglutinin Sparse facial hair Hypopigmentation of the skin Susceptibility to chickenpox Small hand Short palm Flaring of lower rib cage Hypoplasia of the maxilla Severe T-cell immunodeficiency Biconvex vertebral bodies Abnormality of humoral immunity Macrocytic anemia Bowing of the long bones Abnormality of the ribs Fair hair Abnormality of the pancreas Aplastic anemia Accelerated skeletal maturation Neoplasm of the skin Abnormal palate morphology Reduced tendon reflexes Tracheal stenosis Sacral dimple Portal hypertension Cone-shaped epiphysis Squamous cell carcinoma Aplasia/Hypoplasia of the abdominal wall musculature Heart block Mesomelia Upper limb undergrowth Thrombocytosis Femoral bowing Distal arthrogryposis Esophageal atresia Basal cell carcinoma Abnormality of the hip bone High hypermetropia Hodgkin lymphoma Sparse eyelashes Aplasia/Hypoplasia affecting the eye Metaphyseal dysostosis Spinal dysraphism Depressed nasal ridge Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Aganglionic megacolon Abnormality of the distal phalanx of finger Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Congenital hypoplastic anemia Bronchiectasis Large face Metaphyseal chondrodysplasia Abnormality of retinal pigmentation Hypersplenism Normocytic anemia Diaphyseal thickening Bronchiolitis Gingival overgrowth Sparse and thin eyebrow Abnormality of chromosome stability Short ribs Hypocalcemia Metaphyseal cupping Anal stenosis Ventricular septal defect Abnormal vertebral morphology Hypertonia Coma Hepatic failure Thin vermilion border Hypermetropia Joint stiffness Irritability Elevated hepatic transaminase Hypoglycemia Jaundice Acidosis Diabetes mellitus Abnormal heart morphology Hypoplasia of proximal fibula Type I diabetes mellitus Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Lumbar scoliosis Selective tooth agenesis Acute monocytic leukemia 11 pairs of ribs Abnormal cortical gyration Abnormally large globe Chromosome breakage Severe intrauterine growth retardation Dehydration Hyperglycemia Dislocated radial head Pancreatic hypoplasia Irregular tarsal ossification Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Abnormality of pancreas morphology Reduced pancreatic beta cells Irregular carpal bones Bilateral coxa valga Transient neonatal diabetes mellitus Shortening of all middle phalanges of the fingers Chronic hepatic failure Decreased hip abduction Hip subluxation Central hypothyroidism Preauricular pit Flattened epiphysis Narrow iliac wings Carpal bone hypoplasia Enlarged thorax Thin bony cortex Acute hepatic failure Renal tubular dysfunction Ketoacidosis Insulin-resistant diabetes mellitus Hyperuricemia Glycosuria Neurodevelopmental delay Abnormality of neuronal migration Proportionate short stature Acute myeloid leukemia Abnormality of the nail Abnormal pattern of respiration Downslanted palpebral fissures Cryptorchidism Cleft palate Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Persistence of primary teeth Low back pain Hypoplasia of the corpus callosum Small face Ridged nail Spondylolisthesis Osteolytic defects of the phalanges of the hand Abnormality of the clavicle Agenesis of permanent teeth Prominent occiput Osteomyelitis Abnormality of dental morphology Abnormality of the thorax Increased susceptibility to fractures Osteolysis Abnormality of the fingernails Abnormal cardiac septum morphology Hypospadias Clitoral hypertrophy Thick eyebrow Myelodysplasia Patent foramen ovale Sandal gap Narrow face Dental crowding Hypoplasia of dental enamel Pachygyria Cerebellar vermis hypoplasia Pancytopenia Sloping forehead Dental malocclusion Tapered finger Single transverse palmar crease Talipes Clinodactyly Facial asymmetry Pulmonic stenosis Synophrys Small for gestational age Microtia Blepharophimosis Postnatal growth retardation Abnormality of the pinna Intellectual disability, moderate Retrognathia Posteriorly rotated ears Pes cavus Clinodactyly of the 5th finger Pectus carinatum Gliosis Sparse hair Elevated erythrocyte sedimentation rate Otosclerosis Extramedullary hematopoiesis Abnormality of tibia morphology Slender build Facial paralysis Abnormality of the ulna Raynaud phenomenon Gangrene Abnormality of the skull Poor appetite Aplasia/Hypoplasia of the radius Reduced subcutaneous adipose tissue Urinary retention Hyperostosis Cachexia Easy fatigability Increased intracranial pressure Leukopenia Vasculitis Diplopia Anorexia Limitation of joint mobility Sensory neuropathy Vertigo Abnormality of the humerus Lower limb pain Muscular dystrophy Generalized hypotonia Otitis media Sleep disturbance Oral cleft Confusion Cleft lip Conductive hearing impairment Rigidity Gastroesophageal reflux Ventriculomegaly Hyperreflexia Delayed speech and language development Elevated aldolase level Sclerosis of skull base Abnormal subcutaneous fat tissue distribution Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Diaphyseal dysplasia Diaphyseal sclerosis Cranial nerve compression Abnormality of the radius Limb pain Cranial hyperostosis Delayed puberty Neurological speech impairment Epidermal acanthosis Respiratory tract infection Restrictive ventilatory defect Spastic diplegia Rheumatoid arthritis Systemic lupus erythematosus Purpura Recurrent bacterial infections Spastic tetraplegia Cerebral calcification Hemolytic anemia Lymphadenopathy Abnormality of the cerebral white matter Arthritis Basal ganglia calcification Recurrent respiratory infections Hypoplastic iliac body Cervical subluxation Broad phalanx J-shaped sella turcica Delayed ossification of carpal bones Hypoplastic ilia Short finger Rocker bottom foot Aortic valve stenosis Hypotelorism Scleroderma Autoimmune hemolytic anemia Paralysis Ataxia Feeding difficulties in infancy Facial palsy Hypertrophic cardiomyopathy Proximal muscle weakness Difficulty walking Glaucoma Hypogonadism Fatigue Optic atrophy Skeletal muscle atrophy Muscle weakness Hypopigmented skin patches on arms Recurrent sinusitis Arthralgia/arthritis Metaphyseal sclerosis Progressive spastic quadriplegia Madelung deformity Decrease in T cell count Tubulointerstitial fibrosis Spondylometaphyseal dysplasia Immune dysregulation Juvenile rheumatoid arthritis Narrow nose Vitiligo Autoimmune thrombocytopenia Overgrowth Tetraparesis Low-set, posteriorly rotated ears Glomerulonephritis Lymphoproliferative disorder Disproportionate short-trunk short stature Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Glomerulopathy Multiple cafe-au-lait spots High pitched voice Emphysema Focal segmental glomerulosclerosis Melanocytic nevus Glomerulosclerosis Cerebral ischemia Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Heterotopia Intellectual disability, profound Nephrotic syndrome Decreased testicular size Villous atrophy Precocious atherosclerosis Migraine Lateral displacement of the femoral head Joint laxity Carcinoma EEG abnormality Macrotia Alopecia Constipation Dilatation Anteverted nares Wide nasal bridge Visual impairment Failure to thrive Nephrosclerosis Subvalvular aortic stenosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Encephalomalacia Increased thyroid-stimulating hormone level Steroid-resistant nephrotic syndrome Multiple lentigines Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Premature birth Brain atrophy Osteoarthritis Abnormality of the elbow Recurrent ear infections Myelopathy Hypoxemia Cor pulmonale Central apnea Dysuria Upper airway obstruction Communicating hydrocephalus Megalencephaly Spinal cord compression Obstructive sleep apnea Spinal canal stenosis Central sleep apnea Hip contracture Neuroblastoma Bowel incontinence Short femoral neck Chronic otitis media Short long bone Infantile muscular hypotonia Acanthosis nigricans Paraparesis Clonus Recurrent urinary tract infections Chronic myelogenous leukemia Cervical myelopathy Abnormal cerebellum morphology Congestive heart failure Bulbous nose Abnormality of skin pigmentation Stage 5 chronic kidney disease Astigmatism Corneal opacity Stroke Developmental regression Abnormality of the kidney Proteinuria Thin upper lip vermilion Dementia Vomiting Obstructive lung disease Cerebellar atrophy Fever Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Hypopnea Ivory epiphyses of the toes



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