Breast carcinoma, and Genu valgum

Diseases related with Breast carcinoma and Genu valgum

In the following list you will find some of the most common rare diseases related to Breast carcinoma and Genu valgum that can help you solving undiagnosed cases.


Top matches:

High match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match CARPENTER SYNDROME


Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARPENTER SYNDROME

Low match CHST3-RELATED SKELETAL DYSPLASIA


CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

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Other less relevant matches:

Low match EAR-PATELLA-SHORT STATURE SYNDROME


Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

EAR-PATELLA-SHORT STATURE SYNDROME Is also known as microtia, absent patellae, micrognathia syndrome|meier-gorlin syndrome|eps|ear, patella, short stature syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about EAR-PATELLA-SHORT STATURE SYNDROME

Low match FRANK-TER HAAR SYNDROME


Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Low match TRICHORHINOPHALANGEAL SYNDROME TYPE 2


Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match HURLER-SCHEIE SYNDROME


Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS


Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Low match PACHYDERMOPERIOSTOSIS


Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp

Related symptoms:

  • Scoliosis
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about PACHYDERMOPERIOSTOSIS

Top 5 symptoms//phenotypes associated to Breast carcinoma and Genu valgum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Abnormality of the skeletal system Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Genu valgum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of cardiovascular system morphology Talipes equinovarus Anteverted nares Kyphoscoliosis Conductive hearing impairment Thickened skin High palate Brachydactyly Hernia Pectus excavatum Camptodactyly Protruding ear Osteopenia Hip dysplasia Kyphosis Osteoporosis Camptodactyly of finger Growth delay Anemia Coarse facial features Micrognathia Gynecomastia Severe short stature Prominent nasal bridge Cryptorchidism Low-set ears Talipes Depressed nasal bridge Joint stiffness Wide nasal bridge Deeply set eye Arthralgia Short neck Seizures Thick vermilion border Clinodactyly Brachycephaly Delayed skeletal maturation Retrognathia Umbilical hernia Broad forehead Skeletal dysplasia Craniosynostosis Pectus carinatum Osteolysis Flexion contracture Bone pain Microcephaly Abnormal form of the vertebral bodies Microdontia Motor delay Aseptic necrosis Cognitive impairment Glaucoma Intellectual disability, mild Macrocephaly Neoplasm Delayed speech and language development Ptosis

Rare Symptoms - Less than 30% cases


Bilateral single transverse palmar creases Joint dislocation Limitation of joint mobility Widely spaced teeth Elbow dislocation Heart murmur Bilateral talipes equinovarus Thin ribs Arthropathy Inguinal hernia Irregular vertebral endplates Bowing of the long bones Thoracic kyphosis Splenomegaly Shield chest Hepatomegaly Posterior scalloping of vertebral bodies Cardiomyopathy Hydrocephalus Failure to thrive Respiratory insufficiency Aortic valve stenosis Short distal phalanx of finger Lumbar hyperlordosis Ventricular septal defect Wide intermamillary distance Sparse and thin eyebrow Narrow palate Preaxial polydactyly Bilateral cryptorchidism Cutaneous finger syndactyly Shawl scrotum Abnormal cornea morphology Autism Long philtrum Behavioral abnormality Abnormal heart morphology Arthritis Microtia Headache Hip dislocation Platyspondyly Thick eyebrow Intrauterine growth retardation Delayed eruption of teeth Cleft palate Respiratory failure Clinodactyly of the 5th finger Dental malocclusion Gait disturbance Downslanted palpebral fissures Intellectual disability, severe Congestive heart failure Proptosis Visual impairment Corneal opacity Spinal cord compression Hirsutism Abnormal palate morphology Pes cavus Abnormality of the metacarpal bones Sparse scalp hair Acne Metatarsus adductus Nevus Sparse hair Macrotia Abnormality of the dentition Generalized hypotonia Microphthalmia Peripheral neuropathy Hypogonadism Hypoplasia of the maxilla Finger syndactyly Narrow mouth High forehead Joint laxity Blepharophimosis Joint hyperflexibility Joint hypermobility Short palm Small hand Abnormality of the ribs Abnormal pyramidal sign Thick lower lip vermilion Knee flexion contracture Long eyelashes Abnormality of epiphysis morphology Short ribs Coxa valga Short chin Genu varum Otitis media Synophrys Highly arched eyebrow Tricuspid regurgitation Malabsorption Upslanted palpebral fissure Specific learning disability Midface retrusion Back pain Gastrointestinal hemorrhage Frontal bossing Polydactyly Micropenis Clitoral hypertrophy Pulmonic stenosis Mitral valve prolapse Spina bifida Sensorineural hearing impairment Syndactyly Tibial bowing Epicanthus Distal amyotrophy Narrow chest Thick upper lip vermilion Congenital cataract Downturned corners of mouth Neurodegeneration Chromosome breakage Cor pulmonale Stomach cancer Babinski sign Hypoplasia of the corpus callosum Myopathy Hypertonia Malar flattening Ovarian carcinoma Areflexia Agenesis of corpus callosum Macrodontia Duodenal stenosis Diabetes mellitus Gait ataxia Hypothyroidism Aggressive behavior Developmental regression Ovarian neoplasm Clonus Cerebral calcification Schizophrenia Basal ganglia calcification Ankle clonus Abnormal metaphyseal trabeculation Abnormality of femoral epiphysis Mixed hearing impairment Truncal obesity Anterior scalloping of vertebral bodies Abnormality of cranial sutures Anonychia Melanocytic nevus Abnormality of the glenoid fossa Abnormality of the lumbar spine Abnormality of glycosaminoglycan metabolism Self-injurious behavior Widely patent coronal suture Proximal placement of thumb Increased size of nasopharyngeal adenoids Plagiocephaly Spastic paraparesis Contractures of the joints of the upper limbs Abnormality of the styloid process of ulna Abnormality of the humeral epiphysis Paraparesis Carcinoma Hypopigmentation of the skin Hypergonadotropic hypogonadism Low anterior hairline Skeletal muscle atrophy Bone marrow hypocellularity Bradykinesia Edema Mild postnatal growth retardation Cataract Vesicoureteral reflux Redundant skin Deep philtrum Recurrent upper respiratory tract infections Abnormal cortical bone morphology Scapular winging Exotropia Seborrheic dermatitis Recurrent urinary tract infections Peptic ulcer Growth hormone deficiency Abnormal hair quantity Ectodermal dysplasia Eczematoid dermatitis Neoplasm of the lung Bulbous nose Delayed puberty Stroke Abnormality of bone marrow cell morphology Low-set, posteriorly rotated ears Thin upper lip vermilion Cutis gyrata of scalp Ventriculomegaly Muscular hypotonia Clubbing of toes Anterior concavity of thoracic vertebrae Cortical irregularity Abnormal hair pattern Cone-shaped epiphysis Ataxia Prune belly Redundant skin in infancy Multiple long-bone exostoses Scapular exostoses Rib exostoses Persistent cloaca Abnormality of the skull base Aplasia/Hypoplasia of the mandible Absent toe Hydrometrocolpos Hyperhidrosis Palmoplantar keratoderma Abnormality of the fingernails Multiple exostoses Increased number of teeth Neoplasm of the skin Thick nasal alae Vaginal atresia Cerebral palsy Avascular necrosis of the capital femoral epiphysis Osteomyelitis Oligospermia Fragile nails Joint swelling Cone-shaped epiphyses of the phalanges of the hand Growth hormone excess Exostoses Abnormality of the sella turcica Abnormality of the breast Abnormality of lysosomal metabolism Aortic valve calcification Chronic otitis media Wide cranial sutures Abnormal nerve conduction velocity Coarse hair Easy fatigability Increased intracranial pressure Arnold-Chiari malformation Opacification of the corneal stroma Abnormality of dental enamel Peripheral edema Corneal crystals Abnormality of the radius Generalized hirsutism Carpal bone hypoplasia Congenital hip dislocation Abnormality of the optic disc Elbow flexion contracture Abnormality of the gingiva Abnormal vertebral morphology Abnormality of retinal pigmentation Lower limb spasticity Recurrent otitis media Hip subluxation Cardiomegaly J-shaped sella turcica Progressive visual loss Mitral valve calcification Platybasia Abnormality of dental morphology Asthma Diastasis recti Dilation of lateral ventricles Sparse pubic hair Sagittal craniosynostosis Broad ribs Nasal obstruction Sparse axillary hair Communicating hydrocephalus Myelopathy Hydrocele testis Tracheal stenosis Dysostosis multiplex Abnormality of the ulna Hypoplastic iliac wing Chronic sinusitis Toe walking Obstructive sleep apnea Papilledema Blepharitis Peripheral visual field loss Protuberant abdomen Rhinitis Spinal canal stenosis Hyperactive deep tendon reflexes Abnormal diaphysis morphology Abnormal heart valve morphology Exertional dyspnea Restrictive ventilatory defect Multiple joint contractures Heparan sulfate excretion in urine Hernia of the abdominal wall Sparse body hair Broad face Motor tics Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Progressive gait ataxia Abnormality of mucopolysaccharide metabolism Poor coordination Insulin-resistant diabetes mellitus Limited shoulder movement Abnormality of the tonsils Exercise-induced muscle stiffness Dilated third ventricle Restlessness Flared iliac wings Striae distensae Small abnormally formed scapulae Hip contracture Congenital hypothyroidism Short tubular bones of the hand Torus palatinus Absent facial hair Macroglossia Dolichocephaly Sleep disturbance Delayed menarche Prominent coccyx Wide nose Retinal degeneration Urinary glycosaminoglycan excretion Astigmatism Lower limb muscle weakness Limb muscle weakness Carious teeth Hypermetropia Cervical instability Frontal hirsutism Optic nerve compression Increased size of the mandible Progressive flexion contractures Nyctalopia Hepatosplenomegaly Hyperkeratosis Abdominal pain Recurrent respiratory infections Constipation Thickened ribs Diarrhea Dermatan sulfate excretion in urine Abnormality of the acetabulum Superiorly displaced ears Calcification of the auricular cartilage Serpentine fibula Aganglionic megacolon Broad clavicles Paralysis External genital hypoplasia Supernumerary nipple Dextrocardia Trigonocephaly Cutis laxa Coxa vara Situs inversus totalis Broad thumb Postaxial hand polydactyly Webbed neck Postaxial polydactyly Toe syndactyly Autistic behavior Attention deficit hyperactivity disorder Hypoplastic nipples Leukemia Pruritus Patent ductus arteriosus Facial asymmetry Paresthesia Obesity Peripheral axonal neuropathy Atrial septal defect Abnormality of skin pigmentation Recurrent fractures Lymphoma Overgrowth Tetralogy of Fallot Abnormality of the cardiovascular system Transposition of the great arteries Turricephaly Brow ptosis Hyperlordosis Sparse eyebrow Delayed gross motor development Aortic regurgitation Spina bifida occulta Rhizomelia Blindness Mitral regurgitation Ventricular hypertrophy Pulmonary arterial hypertension Limb undergrowth Waddling gait Short metacarpal Dilatation Depressivity Abnormality of the skull Pes planus Visual loss Hyperactivity Weight loss Hypoglycemia Hypertrophic cardiomyopathy Abnormal reproductive system morphology Aplasia of the middle phalanx of the hand Narrow naris Diaphragmatic eventration Oxycephaly Cloverleaf skull Preaxial foot polydactyly Polysplenia Coarctation of aorta Tibial pseudoarthrosis Spondyloepiphyseal dysplasia Renal cell carcinoma Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Meningioma Gangrene Increased reactive oxygen species production Overweight Severe vision loss Osteomalacia Night sweats Multiple cafe-au-lait spots Freckling Neurofibromas Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Precocious puberty Sarcoma Incoordination Reduced bone mineral density Venous thrombosis Atherosclerosis Sensorimotor neuropathy Hypsarrhythmia Anomalous pulmonary venous return Paraganglioma Cerebral artery stenosis Single ventricle Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Pseudoarthrosis Carcinoid tumor Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Cubitus valgus Hypoplasia of the ulna Multiple skeletal anomalies Mandibular aplasia Hypertension Mandibular prognathia Prominent forehead Cafe-au-lait spot Morgagni diaphragmatic hernia Absent glenoid fossa Incomplete partition of the cochlea type II Flat glenoid fossa Microtia, third degree Short ear Absent sternal ossification Abnormality of the patella Small anterior fontanelle Birth length less than 3rd percentile Wide mouth Hypoplastic labia minora Clitoral hypoplasia Hyperconvex nail Breast aplasia Epispadias Aplastic clavicle Aplasia/Hypoplasia of the patella Lateral clavicle hook Osteochondritis Dissecans Unilateral cryptorchidism Breast hypoplasia Anotia Patellar aplasia Breech presentation Abnormality of the pinna Short philtrum Narrow nose Congenital glaucoma Hyperplasia of the maxilla Broad alveolar ridges Thoracolumbar kyphosis Vacuolated lymphocytes Anterior segment developmental abnormality Buphthalmos Concave nasal ridge Beaking of vertebral bodies Abnormally large globe Genu recurvatum Double outlet right ventricle Premature loss of teeth Megalocornea Delayed cranial suture closure Smooth philtrum Flared metaphysis Flat occiput Cholelithiasis Short long bone Wormian bones Pain Wide anterior fontanel Gingival overgrowth Short phalanx of finger Interphalangeal joint contracture of finger Full cheeks Broad nasal tip Single transverse palmar crease Thin vermilion border Hypoplastic labia majora Submucous cleft hard palate Hallux valgus Hypoplasia of the capital femoral epiphysis Anisospondyly Intervertebral space narrowing Narrow vertebral interpedicular distance Sclerotic vertebral endplates Shoulder dislocation Multiple joint dislocation Knee dislocation Decreased hip abduction Abnormality of the carpal bones Spinal deformities Frontal upsweep of hair Ulnar bowing Flattened epiphysis Coronal cleft vertebrae Intervertebral disc degeneration Irregular epiphyses Small epiphyses Enlarged joints Disproportionate short-trunk short stature Mitral stenosis Short 4th metacarpal High anterior hairline Barrel-shaped chest Abnormality of the elbow Short humerus Vertebral fusion Limited elbow extension Short thorax Short femoral neck Tricuspid stenosis Generalized bone demineralization Disproportionate short stature High, narrow palate Slender long bone Severe hearing impairment Emphysema Mild short stature Atresia of the external auditory canal Abnormality of pelvic girdle bone morphology Abnormality of the outer ear Hemivertebrae Increased body weight Joint contracture of the hand Thin skin Short palpebral fissure Hypoplasia of penis Bifid uvula Dysarthria Limited hip extension Arthrogryposis multiplex congenita Small for gestational age Postnatal growth retardation Feeding difficulties in infancy Gastroesophageal reflux Dyspnea Posteriorly rotated ears Hypospadias Respiratory distress Feeding difficulties Strabismus Fixed elbow flexion Deviation of the 5th finger Multiple carpal ossification centers Impaired temperature sensation



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