Myopia, and Weight loss

Diseases related with Myopia and Weight loss

In the following list you will find some of the most common rare diseases related to Myopia and Weight loss that can help you solving undiagnosed cases.


Top matches:

Medium match ALPORT SYNDROME, X-LINKED; ATS


Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999).Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance (OMIM ) is rare (Kashtan, 1999).See also benign familial hematuria (BFH ), a phenotypically similar, but milder disorder.Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (OMIM ) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME ).

ALPORT SYNDROME, X-LINKED; ATS Is also known as nephropathy and deafness, x-linked

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME, X-LINKED; ATS

Medium match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Medium match SHORT SYNDROME


SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

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Other less relevant matches:

Medium match BARAITSER-WINTER SYNDROME 1; BRWS1


BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Medium match SCHWARTZ-JAMPEL SYNDROME


Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

SCHWARTZ-JAMPEL SYNDROME Is also known as myotonic chondrodystrophy|schwartz-jampel-aberfeld syndrome|burton skeletal dysplasia|sjs|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|dysostosis enchondralis metaepiphysaria, catel-hempel type|burton syndrome|aberfeld syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME

Medium match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Medium match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Medium match SENIOR-LOKEN SYNDROME


Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome|juvenile nephronophthisis with leber amaurosis|loken-senior syndrome|renal dysplasia-retinal aplasia syndrome|nephronophthisis with retinal dystrophy|slsn|renal dysplasia and retinal aplasia|senior-loken syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME

Medium match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Medium match ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME


Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

Top 5 symptoms//phenotypes associated to Myopia and Weight loss

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopia and Weight loss. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hearing impairment Nystagmus Hypertelorism Seizures Microcephaly Abnormal facial shape Micrognathia Failure to thrive Ptosis Strabismus Scoliosis Photophobia Cachexia Hypermetropia Edema Vomiting Feeding difficulties in infancy Visual impairment Hyperkeratosis Abnormality of dental enamel Attention deficit hyperactivity disorder Osteoporosis Low-set ears Kyphosis Hyperactivity Delayed speech and language development Delayed skeletal maturation Generalized hypotonia Muscular hypotonia High palate Feeding difficulties Joint stiffness Motor delay Intellectual disability, severe Renal insufficiency Fatigue Hypertension

Rare Symptoms - Less than 30% cases


Delayed eruption of teeth Abnormality of the pinna Joint hyperflexibility Joint hypermobility Short palm Downturned corners of mouth Decreased body weight Microcornea Hip dislocation Narrow mouth Dental malocclusion Abnormality of the skin Skeletal dysplasia Thin skin Ataxia Scarring Neurological speech impairment Insulin resistance Subcutaneous nodule Abnormality of the dentition Ventriculomegaly Arthrogryposis multiplex congenita Clinodactyly Abnormal heart morphology Inguinal hernia Alopecia Behavioral abnormality Leukemia Prominent forehead Diabetes mellitus Glaucoma Macrotia Broad forehead Hyporeflexia Cognitive impairment Skeletal muscle hypertrophy Increased body weight Growth delay Hip dysplasia Full cheeks Dystonia Irritability Genu valgum Bilateral sensorineural hearing impairment Cryptorchidism Long philtrum Prominent nasal bridge Flexion contracture Stage 5 chronic kidney disease Short neck Anteverted nares Epicanthus Short nose Microphthalmia Macrocephaly Mandibular prognathia Mask-like facies Thin upper lip vermilion Lipodystrophy Radial deviation of finger Retrognathia Glucose intolerance Lipoatrophy Dilatation Micropenis Retinopathy Wormian bones Generalized hirsutism Apnea Striae distensae Abnormality of metabolism/homeostasis Headache Malar flattening Intrauterine growth retardation Thickened skin Spontaneous abortion Nevus Gastrointestinal hemorrhage Epidermal acanthosis Carious teeth Dolichocephaly Pulmonary embolism Bicuspid aortic valve Neonatal hypotonia Intellectual disability, moderate Wide nasal bridge Kyphoscoliosis Proptosis Constipation Hypopigmentation of the skin Long face Inflammation of the large intestine Overfolded helix Growth abnormality Chorioretinal coloboma Diabetes insipidus Abnormality of retinal pigmentation Decreased muscle mass Open mouth Dyspnea Polymicrogyria Redundant skin Renal cyst Blindness Immunodeficiency Recurrent infections Abdominal pain Tubulointerstitial nephritis Melanocytic nevus Abnormality of the skeletal system Albinism Ocular albinism Gait disturbance Clumsiness High myopia Talipes equinovarus Low anterior hairline Nephritis Chronic kidney disease Respiratory insufficiency Myopathy Neoplasm Everted lower lip vermilion Pain Depressed nasal bridge Heterotopia Visual loss Aortic valve stenosis Syndactyly Fever Osteopenia Brachydactyly Hypopigmentation of hair Iris hypopigmentation Hypertonia Metatarsus valgus Neoplasm of the thymus Obesity Delayed puberty Pruritus Stroke Infertility Hypogonadism Respiratory tract infection Recurrent respiratory infections Upslanted palpebral fissure Central heterochromia Intellectual disability, mild Increased thyroid-stimulating hormone level Connective tissue nevi Abnormality of the nervous system Respiratory failure Depigmentation/hyperpigmentation of skin Autism Hypertrophy of skin of soles Hypoglycemia Congestive heart failure Mandibular hyperostosis Abnormality of creatine metabolism Narrow philtrum Lipoma Hemihypertrophy Abnormality of the neck Lower limb asymmetry Arteriovenous malformation Varicose veins Deep venous thrombosis Meningioma Macroorchidism Abnormality of the wrist Abnormality of finger Spinal cord compression Capillary hemangioma Papilledema Exostoses Neoplasm of the lung Arterial thrombosis Neurofibromas Palmoplantar hyperkeratosis Reduced number of teeth Hyperostosis Hallux valgus Disproportionate tall stature Pericardial effusion Multiple lipomas Abnormal lung lobation Multiple cafe-au-lait spots Hamartoma Ovarian neoplasm Generalized hyperpigmentation Spinal canal stenosis Irregular hyperpigmentation Anisocytosis Buphthalmos Abnormal subcutaneous fat tissue distribution Upper limb asymmetry Retinal nonattachment Bronchogenic cyst Retinal hamartoma Thymus hyperplasia Nevus sebaceous Facial hyperostosis Narrow internal auditory canal Sirenomelia Macrodactyly Portal vein thrombosis Calvarial hyperostosis Epidermal nevus Lymphangioma Testicular neoplasm Keloids Myofibrillar myopathy Asymmetry of the thorax Thin bony cortex Long penis Visceral angiomatosis Thick nasal alae Enlarged polycystic ovaries Asymmetric growth Vascular skin abnormality Nephrogenic diabetes insipidus Thrombophlebitis Generalized hyperkeratosis Small hand Neoplasm of the central nervous system Venous malformation Epibulbar dermoid Arachnodactyly Shallow orbits Short foot Fine hair Congenital hepatic fibrosis Retinal dysplasia Peripheral visual field loss Severe sensorineural hearing impairment Congenital blindness High hypermetropia Nephronophthisis Polyuria Cone-shaped epiphysis Premature ovarian insufficiency Polydipsia Recurrent fractures Hypoplasia of the maxilla Hypotelorism Dermal atrophy Abnormality of bone mineral density Retinal dystrophy Anemia Rod-cone dystrophy Abnormality of the kidney Nyctalopia Retinal degeneration Nausea Nephropathy Pterygium Progressive visual loss Involuntary movements Renal dysplasia Hepatic fibrosis Incoordination Flat occiput Tapetoretinal degeneration Azotemia Poor gross motor coordination Athetosis Sparse hair Underfolded superior helices Poor hand-eye coordination Narrow face External ophthalmoplegia Language impairment Myopathic facies Stereotypy Self-mutilation Chronic constipation Speech apraxia Ileus Impaired social interactions Urethral stenosis Exotropia Tall stature Multiple small medullary renal cysts Aggressive behavior Exudative retinopathy Spasticity Hypoplasia of the corpus callosum Absent speech Pes cavus Thin vermilion border Muscular hypotonia of the trunk Aganglionic megacolon Autistic behavior Ophthalmoplegia Parkinsonism Chorea Delayed myelination Choreoathetosis Acromicria Almond-shaped palpebral fissure Tapered finger Hypogonadotrophic hypogonadism Adrenal insufficiency Large hands Duodenal ulcer Emotional lability Osteolytic defects of the phalanges of the hand Hyperinsulinemia Precocious puberty Failure to thrive in infancy Nasal speech Poor suck Infantile muscular hypotonia Scrotal hypoplasia Sleep apnea Narrow palpebral fissure Bradycardia External genital hypoplasia Amenorrhea Sleep disturbance Sepsis Esotropia Growth hormone deficiency Febrile seizures Specific learning disability Abnormality of the cardiovascular system Primary amenorrhea Narrow forehead Oligohydramnios Decreased fetal movement Type II diabetes mellitus Psychosis Cutaneous photosensitivity Truncal obesity Polyphagia Hypopnea Erysipelas Cor pulmonale Abdominal obesity Poor fine motor coordination Anteverted ears Clitoral hypoplasia Frontal upsweep of hair Disseminated intravascular coagulation Hypothermia Triangular mouth Temperature instability Central adrenal insufficiency Hypoplastic labia minora Psychotic episodes Narrow palm Generalized hypopigmentation Chromosome breakage Narrow nasal bridge Slender long bone Myeloid leukemia Impaired pain sensation Abnormality of the metacarpal bones Hypoventilation Narrow nose Prematurely aged appearance Long nose Hypoplasia of the fovea Delayed cranial suture closure Abnormality of lipid metabolism Central hypotonia Overweight Oligomenorrhea Acrocyanosis Goiter EMG abnormality Hemangioma Triangular face Abnormality of the immune system Reduced subcutaneous adipose tissue Congenital glaucoma Hyperglycemia Prominent supraorbital ridges Opacification of the corneal stroma Short chin Nephrocalcinosis Congenital hip dislocation Abnormality of the face Microdontia Underdeveloped nasal alae Hypodontia Megalocornea Hypotrichosis Corneal opacity Small for gestational age Telecanthus Joint laxity Deeply set eye Severe short stature Depressivity Hernia Frontal bossing Freckles in sun-exposed areas Menometrorrhagia Partial albinism Poor appetite Insulin-resistant diabetes mellitus Impaired platelet aggregation Atrial septal defect Coloboma Wide mouth Postnatal growth retardation Camptodactyly Cleft lip Conductive hearing impairment Coarse facial features Cerebral cortical atrophy Brachycephaly Posteriorly rotated ears Agenesis of corpus callosum Patent ductus arteriosus Abnormality of the zygomatic bone Posterior embryotoxon Hypoplastic facial bones Birth length less than 3rd percentile Enlarged epiphyses Rieger anomaly Abnormality of the mandible Narrow naris Abnormal anterior chamber morphology Excessive wrinkled skin Dimple chin Abnormal pupil morphology Premature skin wrinkling Increased intraocular pressure Hypoplasia of the iris Squamous cell carcinoma of the skin Abnormal thrombocyte morphology Smooth philtrum Hypoparathyroidism Neoplasm of the colon Uterine neoplasm Lenticonus Thickening of the glomerular basement membrane Macroscopic hematuria Periorbital edema Elliptocytosis Abdominal situs inversus Foam cells Corneal erosion Edema of the lower limbs Microscopic hematuria Glomerulopathy Diffuse leiomyomatosis Macular dystrophy Tinnitus Corneal dystrophy Leukopenia Nephrotic syndrome Hematuria Ichthyosis Dry skin Congenital cataract Pallor Proteinuria Thrombocytopenia Dysphagia Diffuse glomerular basement membrane lamellation Anterior lenticonus Ulcerative colitis Acanthosis nigricans Abnormality of the optic nerve Hematochezia Abnormality of visual evoked potentials Gingival bleeding Severe vision loss Freckling Colitis Prolonged bleeding time Restrictive ventilatory defect Basal cell carcinoma Pulmonary fibrosis Melanoma Abnormality of the hair Lentiglobus Amblyopia Anorexia Long eyelashes Abnormal lung morphology Epistaxis Abnormal bleeding Neutropenia Bruising susceptibility Astigmatism Malabsorption Cardiomyopathy Cylindruria Morphological abnormality of the semicircular canal Microtia Cleft upper lip Venous thrombosis Sprengel anomaly Protrusio acetabuli Abnormally ossified vertebrae Flexion contracture of toe Weak voice Wrist flexion contracture Distichiasis Abnormality of the pharynx Aplasia/Hypoplasia affecting the eye Trismus Blepharospasm Abnormal eyebrow morphology Malignant hyperthermia Abnormality of the ureter Pursed lips Hip contracture Abnormality of immune system physiology Increased number of teeth Spinal rigidity High pitched voice Myotonia Elbow dislocation Ectopia lentis Abnormality of the urinary system Dysphonia Laryngomalacia Coxa vara Coxa valga Prenatal movement abnormality Shoulder flexion contracture Abnormality of epiphysis morphology Abnormality of skin pigmentation Abnormality of the nail Lymphopenia Abnormal vertebral morphology Sinusitis Lymphedema Abnormal form of the vertebral bodies Overgrowth Decreased antibody level in blood Round face Gliosis Sudden cardiac death Abdominal distention Confusion Odontogenic neoplasm Facial asymmetry Finger syndactyly Craniosynostosis Carcinoma Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Splenomegaly Downslanted palpebral fissures Optic atrophy Abnormally straight spine Long eyelashes in irregular rows Elevated aldolase level Testicular torsion Increased bone mineral density Nephrolithiasis Oral cleft Lissencephaly Depressed nasal tip Acute lymphoblastic leukemia Inverted nipples Esophageal atresia Protruding tongue Long palpebral fissure Abnormality of the sternum Tracheoesophageal fistula Ectropion Trigonocephaly Bilateral ptosis Abnormality of the outer ear Pointed chin Retinal coloboma Hoarse voice Postnatal microcephaly Pachygyria Hypertrichosis Short palpebral fissure Low posterior hairline Webbed neck Lymphoma Bifid uvula Highly arched eyebrow Thick vermilion border Iris coloboma Wide nose Widow's peak Congenital ptosis Bowing of the long bones Pes planus Abnormality of the metaphysis Pulmonary arterial hypertension Abnormality of the ribs Decreased testicular size Flat face Micromelia Platyspondyly Pectus carinatum Blepharophimosis Hyperlordosis Low-set, posteriorly rotated ears Anxiety Myalgia Umbilical hernia U-Shaped upper lip vermilion Polyhydramnios Elevated serum creatine phosphokinase Arrhythmia Pectus excavatum Skeletal muscle atrophy Cleft palate Muscle weakness Small posterior fossa Duplication of phalanx of hallux Prominent fingertip pads Unilateral ptosis Small thenar eminence Facial edema Thin calvarium



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