Hydrocephalus, and Hip dysplasia

Diseases related with Hydrocephalus and Hip dysplasia

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

Top matches:

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Other less relevant matches:

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Is also known as lenz-majewski syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM

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

Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hip dysplasia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Macrocephaly Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Hip dysplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Kyphosis

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Abnormality of the skeletal system

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism

Common Symptoms - More than 50% cases

Hernia

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Inguinal hernia

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability, mild Motor delay Macroglossia Genu valgum Seizures Cognitive impairment Abnormal facial shape Broad forehead Muscular hypotonia Kyphoscoliosis Hypertelorism Gait disturbance Umbilical hernia Splenomegaly Hepatomegaly Hepatosplenomegaly Corneal opacity Otitis media Ventriculomegaly Mandibular prognathia High palate Coarse facial features Flexion contracture Intellectual disability, moderate Widely spaced teeth Hypoplasia of the corpus callosum Abnormality of the dentition Dysostosis multiplex Frontal bossing Broad ribs Hypertonia Macrotia Short neck Failure to thrive Strabismus Talipes equinovarus Cataract Osteopenia Thoracic kyphosis Conductive hearing impairment Dolichocephaly Areflexia Midface retrusion Myopathy Knee flexion contracture Skeletal muscle atrophy Depressed nasal bridge Hypothyroidism Cardiomyopathy Intellectual disability, severe Abnormal heart valve morphology Sensorineural hearing impairment Micrognathia Neurodegeneration Pectus carinatum Skeletal dysplasia Severe short stature Hirsutism Epicanthus Dermatan sulfate excretion in urine Lumbar hyperlordosis Thickened skin Ptosis Opacification of the corneal stroma Increased intracranial pressure Hypospadias Anteverted nares Behavioral abnormality Anxiety Hypermetropia Spasticity Hyperactivity Glaucoma Agenesis of corpus callosum Prominent forehead Microcephaly

Rare Symptoms - Less than 30% cases

Obstructive sleep apnea Attention deficit hyperactivity disorder Aseptic necrosis Hip dislocation Hypoplasia of the odontoid process Hallucinations Cervical instability Posterior scalloping of vertebral bodies Prominent sternum Hypoplastic iliac wing Specific learning disability Spinal canal stenosis Flared iliac wings Myelopathy Delayed speech and language development Protruding ear Relative macrocephaly Schizophrenia Hypertension Depressivity Upslanted palpebral fissure Dilatation Joint stiffness Short nose Downslanted palpebral fissures Tetraplegia Spastic tetraplegia Ataxia Low-set ears Pectus excavatum Progressive neurologic deterioration Malar flattening Constrictive median neuropathy Aortic valve stenosis Cutis marmorata Recurrent infections Thick eyebrow Absent axillary hair High, narrow palate Delayed skeletal maturation Hypogonadism Proptosis Joint laxity Abnormality of the gingiva Carious teeth Thick vermilion border Abnormal cornea morphology Intrauterine growth retardation Limitation of joint mobility Thickened calvaria Chronic otitis media Hydrocele testis Heart murmur Elbow flexion contracture Abnormality of dental enamel Abnormality of the metacarpal bones Atrial septal defect Cleft palate Respiratory tract infection Gingival overgrowth Platyspondyly Poor speech Edema Autism Recurrent respiratory infections Cranial hyperostosis Hypertrichosis Metatarsus adductus Growth delay Hyperactive deep tendon reflexes Spinal cord compression Retinal degeneration Recurrent ear infections Thoracolumbar kyphosis J-shaped sella turcica Heparan sulfate excretion in urine Decreased pulmonary function Narrow mouth Recurrent upper respiratory tract infections Arachnodactyly Respiratory insufficiency Muscle weakness Sleep apnea Overfolded helix Anemia Apnea Sparse eyebrow Abnormal form of the vertebral bodies Myopia Abnormality of the urinary system Respiratory distress Abnormality of the sternum Waddling gait Dental malocclusion Narrow palate Long face Dyspnea Lower limb muscle weakness Limb muscle weakness Polyhydramnios High forehead Vesicoureteral reflux Pyloric stenosis Accelerated skeletal maturation Facial palsy Prominent nasal bridge Hydronephrosis Craniosynostosis Retinopathy Babinski sign Pes cavus Absent septum pellucidum Gait ataxia Facial asymmetry Abnormal pyramidal sign Abnormality of the foot Spondylolisthesis Broad face Synophrys Long fingers Underdeveloped nasal alae Optic disc pallor Open bite Peripheral demyelination Blepharophimosis Decreased antibody level in blood Bowel incontinence Delayed myelination Joint hypermobility Type II diabetes mellitus Everted lower lip vermilion Gliosis Recurrent bacterial infections Progressive cerebellar ataxia Small hand Highly arched eyebrow Pallor Low anterior hairline Hypotelorism Limb ataxia Wide intermamillary distance Spastic gait Cleft upper lip Amblyopia Focal-onset seizure Flat occiput Bowing of the legs Tall stature Oral cleft Bowing of the long bones Pancytopenia Eczema Dry skin Depressed nasal ridge Bulbous nose Small for gestational age Abnormal cardiac septum morphology Scarring Psychosis Prominent supraorbital ridges Pes planus Confusion Slender finger Positional foot deformity Failure to thrive in infancy Aortic aneurysm Broad chin Conspicuously happy disposition Elbow dislocation Feeding difficulties in infancy Impulsivity Cortical dysplasia Vertebral fusion Pear-shaped nose Narrow palm Abnormality of hair pigmentation Multifocal epileptiform discharges Prominent metopic ridge Expressive language delay Neurodevelopmental delay Glioma Abnormality of hair texture Cleft lip Abnormality of the head Anteverted ears Chronic infection Prominent fingertip pads Nasal speech Hypotrophy of the small hand muscles Status epilepticus Immunodeficiency Dysmetria Abnormality of the cerebral white matter Open mouth Neurological speech impairment Mental deterioration Arthritis Abnormal heart morphology Abnormality of the genital system Heterotopia Cerebral atrophy Long philtrum Cerebellar atrophy Absent speech Optic atrophy Joint dislocation Dysarthria Narrow palpebral fissure Abnormality of cardiovascular system morphology Hyperreflexia Sacral dimple Bicuspid aortic valve Abnormality of the genitourinary system Laryngomalacia Pain Nystagmus Pulmonic stenosis Sleep disturbance Femoral bowing Cor pulmonale Abnormality of the optic disc Aortic valve calcification Abnormality of the radius Corneal crystals Peripheral edema Abnormal nerve conduction velocity Wide cranial sutures Platybasia Carpal bone hypoplasia Abnormal diaphysis morphology Nasal obstruction Shield chest Sagittal craniosynostosis Dilation of lateral ventricles Mitral valve calcification Sparse pubic hair Sparse axillary hair Communicating hydrocephalus Tracheal stenosis Abnormality of the ulna Diastasis recti Chronic sinusitis Papilledema Blepharitis Peripheral visual field loss Protuberant abdomen Rhinitis Arthropathy Hip subluxation Hernia of the abdominal wall Restrictive ventilatory defect Abnormality of lysosomal metabolism Abnormality of the styloid process of ulna Contractures of the joints of the upper limbs Increased size of nasopharyngeal adenoids Widely patent coronal suture Abnormality of glycosaminoglycan metabolism Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Anterior scalloping of vertebral bodies Abnormality of femoral epiphysis Abnormal metaphyseal trabeculation Abnormality of the sella turcica Abnormality of the skull base Short tubular bones of the hand Delayed menarche Small abnormally formed scapulae Abnormality of the breast Dilated third ventricle Exercise-induced muscle stiffness Abnormality of the tonsils Limited shoulder movement Abnormality of mucopolysaccharide metabolism Abnormality of the acetabulum Thickened ribs Progressive flexion contractures Optic nerve compression Frontal hirsutism Urinary glycosaminoglycan excretion Exertional dyspnea Multiple joint contractures Bronchitis Cerebral dysmyelination Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Retinal thinning Spinocerebellar tract disease in lower limbs Long ear Vacuolated lymphocytes Abnormal echocardiogram Synovitis Abnormality of the rib cage Craniofacial hyperostosis Abnormality of the helix Reduced ejection fraction Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Limb dystonia Flattened moderately deformed vertebrae Visual impairment Toe walking Abnormality of the ribs Abnormality of dental morphology Back pain Coarse hair Easy fatigability Arnold-Chiari malformation Coxa valga Generalized hirsutism Congenital hip dislocation Short ribs Abnormal vertebral morphology Abnormality of retinal pigmentation Lower limb spasticity Recurrent otitis media Cardiomegaly Diarrhea Microdontia Progressive visual loss Asthma Wide nose Astigmatism Nyctalopia Camptodactyly of finger Arthralgia Retrognathia Hyperkeratosis Abdominal pain Constipation Headache Congestive heart failure Vomiting Humeroradial synostosis Ventricular septal defect Metaphyseal irregularity Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Abnormality of the nervous system Arrhythmia Anterior wedging of L2 Anterior wedging of L1 Hypoplastic acetabulae Cervical cord compression Cervical myelopathy Retinal fold Disproportionate short-trunk short stature Ovoid vertebral bodies Metaphyseal widening Postnatal growth retardation Epiphyseal dysplasia Spastic tetraparesis Decreased body weight Split hand Tetraparesis Hepatic hemangioma Respiratory failure requiring assisted ventilation Birth length greater than 97th percentile Slender toe Premature adrenarche Nocturnal hypoventilation Fractures of the long bones Hyperlordosis Vertigo Diaphragmatic eventration Narrow greater sacrosciatic notches Joint hyperflexibility Finger syndactyly Sparse hair Wide mouth Cerebral cortical atrophy Syndactyly Brachydactyly Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Anterior beaking of lumbar vertebrae Pseudoarthrosis Snoring Thoracic kyphoscoliosis Ascites Acetabular dysplasia Pulmonary insufficiency Nonimmune hydrops fetalis Thoracolumbar scoliosis Mild short stature Spondyloepiphyseal dysplasia Pleural effusion Pterygium Cardiac arrest Hydrops fetalis Broad-based gait Webbed neck Cavernous hemangioma Spherocytosis Delayed eruption of teeth Short chin Feeding difficulties Partial absence of the septum pellucidum Craniofacial asymmetry Intraventricular hemorrhage Ureterocele Metopic synostosis Arachnoid cyst Narrow nose Arnold-Chiari type I malformation Syringomyelia Obsessive-compulsive behavior Aplasia/Hypoplasia of the corpus callosum Renal hypoplasia Dysphagia Pigmentary retinopathy Overgrowth Urinary incontinence Polymicrogyria Thin vermilion border Thin upper lip vermilion Jaundice Polydactyly Tetralogy of Fallot Arthrogryposis multiplex congenita Autistic behavior Gastroesophageal reflux Fatigue Respiratory failure Head tremor Hemangioma Facial diplegia Hypoventilation Neck muscle weakness Centrally nucleated skeletal muscle fibers Weak cry Hypokinesia Mask-like facies Neonatal respiratory distress Myotonia Ophthalmoparesis Cholelithiasis Atrioventricular block External ophthalmoplegia Paralysis Severe muscular hypotonia Nephrocalcinosis EMG abnormality Narrow face Decreased liver function Progressive muscle weakness Nephrolithiasis Decreased fetal movement Hepatitis Abnormal bleeding Generalized muscle weakness Inability to walk Ophthalmoplegia Short palm Bifid uvula Superiorly displaced ears Cerebral calcification Self-injurious behavior Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Paraparesis Hypergonadotropic hypogonadism Clonus Gynecomastia Sparse scalp hair Thick lower lip vermilion Bradykinesia Nevus Bilateral cryptorchidism Hypoplasia of the maxilla Downturned corners of mouth Short distal phalanx of finger Distal amyotrophy Narrow chest Congenital cataract Developmental regression Aggressive behavior Deeply set eye Brachycephaly Diabetes mellitus Osteoporosis Melanocytic nevus Anonychia Peripheral neuropathy Tics Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Torus palatinus Motor tics Basilar impression Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Bone cyst Generalized osteoporosis Dystrophic fingernails Truncal obesity Progressive gait ataxia Poor coordination Irregular vertebral endplates Insulin-resistant diabetes mellitus Restlessness Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Basal ganglia calcification Ankle clonus Mixed hearing impairment Microphthalmia Neoplasm Choanal atresia Delayed cranial suture closure Progeroid facial appearance Choanal stenosis Abnormality of finger Osteopetrosis Microglossia Submucous cleft hard palate Anteriorly placed anus Prematurely aged appearance Aplasia/Hypoplasia of the skin Reduced subcutaneous adipose tissue Limited elbow extension External genital hypoplasia Flared metaphysis Hypoplastic fingernail Short middle phalanx of finger Hyperostosis Redundant skin Dermal atrophy Cutaneous syndactyly Cutis laxa Increased bone mineral density Short toe Hypoplasia of dental enamel Large fontanelles Thin skin Abnormality of the metaphysis Premature skin wrinkling Prominent superficial veins Stiff finger Aplasia/Hypoplasia of the middle phalanges of the hand Progressive sclerosis of skull base Lumbar kyphoscoliosis Exodeviation Facial hyperostosis Prominent scalp veins Proximal symphalangism of hands Proximal symphalangism Broad clavicles Calvarial hyperostosis Abnormality of the penis Elbow ankylosis Aplasia of the middle phalanx of the hand Hyperconvex fingernails Abnormal cortical bone morphology Sclerosis of skull base Delayed eruption of permanent teeth Abnormal nasolacrimal system morphology Lacrimal duct stenosis Epispadias Aplastic clavicle Diaphyseal thickening Chordee Nasolacrimal duct obstruction Femoral hernia Hyperextensibility of the finger joints Generalized osteosclerosis Symphalangism affecting the phalanges of the hand Abnormality of the humeral epiphysis


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