Ptosis, and Micromelia

Diseases related with Ptosis and Micromelia

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


Top matches:

Medium match KNIEST DYSPLASIA


Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Medium match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Medium match AUTOSOMAL DOMINANT ROBINOW SYNDROME


Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

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Other less relevant matches:

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 CORNELIA DE LANGE SYNDROME


Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

Medium match PETERS PLUS SYNDROME


Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

PETERS PLUS SYNDROME Is also known as peters anomaly with short-limb dwarfism|krause-kivlin syndrome|krause-van schooneveld-kivlin syndrome|peters anomaly with short limb dwarfism

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PETERS PLUS SYNDROME

Medium match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Medium match SMITH-LEMLI-OPITZ SYNDROME


Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Low match SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY


Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

Low match TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME


Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome|odpd|osseous dysplasia, digital, with facial pigmentary defects and multiple frenula|todpd|terminal osseous dysplasia and pigmentary defects|odpf

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ptosis
  • Low-set ears
  • Flexion contracture


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME

Top 5 symptoms//phenotypes associated to Ptosis and Micromelia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ptosis and Micromelia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cataract

Uncommon Symptoms - Between 30% and 50% cases


Long philtrum

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Short nose

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Short neck

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Hip dislocation

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Myopia Seizures Nystagmus Toe syndactyly Syndactyly Anteverted nares Retrognathia Proptosis Glaucoma Severe short stature Inguinal hernia Hypospadias Cryptorchidism Strabismus Global developmental delay Low-set ears Ventricular septal defect Intrauterine growth retardation Atrial septal defect Microcornea Abnormal facial shape Elbow dislocation Feeding difficulties in infancy Low-set, posteriorly rotated ears Hypertonia High palate Intellectual disability, severe Abnormality of the skeletal system Prominent forehead Hypoplastic labia majora Macrocephaly Skeletal dysplasia Umbilical hernia Conductive hearing impairment Growth delay Rhizomelia Brachydactyly Proximal placement of thumb Flexion contracture Clinodactyly of the 5th finger Pectus excavatum Abnormality of digit Wide nasal bridge Downturned corners of mouth Hip dysplasia Oligodactyly Hypoplasia of penis Long eyelashes Epicanthus Increased number of teeth Upslanted palpebral fissure Ventriculomegaly Curly eyelashes Congenital diaphragmatic hernia Generalized hypotonia Short toe Webbed neck Iris coloboma Thin upper lip vermilion Abnormal heart morphology Clinodactyly Hydrocephalus Optic atrophy Cutis marmorata Multicystic kidney dysplasia Choanal atresia Sleep disturbance Talipes equinovarus Highly arched eyebrow Thin vermilion border Gastroesophageal reflux Autism Brachycephaly Hemivertebrae Sensorineural hearing impairment Failure to thrive Abnormality of the urinary system Low anterior hairline Attention deficit hyperactivity disorder Polyhydramnios Delayed skeletal maturation Renal hypoplasia/aplasia Pyloric stenosis Joint stiffness Coxa vara High, narrow palate Abnormality of the ribs Frontal bossing Downslanted palpebral fissures Renal hypoplasia Prominent nasal bridge Abnormal form of the vertebral bodies Kyphosis Malar flattening Midface retrusion Finger syndactyly

Rare Symptoms - Less than 30% cases


Short metatarsal Intestinal malrotation Wide intermamillary distance Vesicoureteral reflux Limb undergrowth Decreased fetal movement Synophrys Premature birth Platyspondyly 2-3 toe syndactyly Round face Visual impairment High myopia Aplasia/Hypoplasia of the corpus callosum Clitoral hypoplasia Prenatal movement abnormality Self-injurious behavior Behavioral abnormality Low posterior hairline Widely spaced teeth Narrow mouth Gait disturbance Craniosynostosis Hyperlordosis Increased nuchal translucency Volvulus Generalized hirsutism Decreased body weight Hydronephrosis Postnatal growth retardation Abnormality of the pinna Wide mouth Hypoplastic nipples Osteoporosis Neurological speech impairment Pulmonic stenosis Smooth philtrum Tracheal stenosis Cleft upper lip Aplasia/Hypoplasia affecting the eye Anxiety Single transverse palmar crease Aplasia/Hypoplasia of the cerebellum Hip contracture Peters anomaly Macrotia Delayed eruption of teeth Feeding difficulties Hypodontia Renal cyst Renal agenesis Telecanthus Abnormality of epiphysis morphology Aggressive behavior Abnormality of cardiovascular system morphology Hypoglycemia Ectopia lentis Hyperactivity Cerebral cortical atrophy Hypertension Short philtrum Fever Abnormality of the genital system Radioulnar synostosis Vomiting Deep philtrum Hypoplasia of the radius Laryngomalacia Abnormality of the metacarpal bones Short thumb Abnormal dermatoglyphics Abnormality of dental enamel Congenital cataract Bifid tongue Protruding ear Sacral dimple Pulmonary hypoplasia Gingival overgrowth Mesomelic short stature Camptodactyly Abnormality of the metaphysis Blue sclerae Short foot Small hand Recurrent otitis media Autistic behavior Thick eyebrow Short palm Pectus carinatum Muscular hypotonia Camptodactyly of finger Posteriorly rotated ears Spasticity Hypothyroidism Coxa valga Hand oligodactyly Perimembranous ventricular septal defect Otitis media with effusion Phocomelia Duplication of internal organs Supernumerary ribs Malrotation of colon Gastroparesis Absent hand Reduced renal corticomedullary differentiation Hypoplastic male external genitalia Esophageal stenosis Projectile vomiting Left-to-right shunt Hypertropia Congenital hip dislocation Short sternum Vertigo Recurrent urinary tract infections Hypertrichosis Microdontia Otitis media Sepsis Triangular face Tapered finger Hirsutism Astigmatism Increased body weight Small for gestational age Pallor Respiratory tract infection Hypertrophic cardiomyopathy Proteinuria Mandibular prognathia Hyperhidrosis Pneumonia Hernia Aspiration Elbow flexion contracture Panhypopituitarism Ectrodactyly Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Esophagitis Aspiration pneumonia Hiatus hernia Poor appetite Dislocated radial head Spontaneous abortion Weak cry Limited elbow extension Ectopic kidney Short middle phalanx of finger Tricuspid regurgitation Clubbing Incoordination Relative macrocephaly Torticollis Opisthotonus Dandy-Walker malformation Abnormality of the umbilicus Abnormal localization of kidney Talipes calcaneovalgus Increased serum testosterone level Hip subluxation Median cleft palate Broad alveolar ridges Gastroschisis Ectopic calcification Ureteropelvic junction obstruction Advanced eruption of teeth Decreased circulating aldosterone level Hypocholesterolemia Abnormal renal morphology Hypoplasia of the frontal lobes Gastrointestinal dysmotility Abnormality of the larynx Cholestatic liver disease Bicornuate uterus Breech presentation Overlapping fingers Sex reversal Excessive daytime somnolence Sclerocornea Severe failure to thrive Microglossia Male pseudohermaphroditism Periventricular gray matter heterotopia Abnormality of the gallbladder Self-mutilation Coloboma Abnormal hand bone ossification Abnormal foot bone ossification Localized skin lesion Mesomelic leg shortening Mesomelic arm shortening Camptodactyly of toe Abnormal oral frenulum morphology Toe clinodactyly Fibroma Anal stenosis Multiple joint contractures Abnormality of skin pigmentation Progressive spastic quadriplegia Septate vagina Spastic tetraparesis Tetraparesis Neonatal hypotonia Coarse facial features Cerebellar atrophy Elevated 7-dehydrocholesterol Abnormality of limbs Facial capillary hemangioma Opsoclonus Severe photosensitivity Alveolar ridge overgrowth Sleep-wake cycle disturbance Postaxial foot polydactyly Upper limb undergrowth Hypoplastic radial head Postaxial polydactyly Split hand Cutaneous photosensitivity Intellectual disability, profound Coarctation of aorta Oligohydramnios Ambiguous genitalia Eczema Narrow forehead Postaxial hand polydactyly Peripheral demyelination Hypopigmentation of the skin Abnormality of the kidney Dental crowding Intellectual disability, moderate Micropenis Polydactyly Cerebellar hypoplasia Constipation Patent ductus arteriosus Recurrent infections Microphthalmia Diarrhea Edema Hypoplasia of the corpus callosum Dysplastic tricuspid valve Aganglionic megacolon Amblyopia Abnormal eyelash morphology Metatarsus adductus Severe intrauterine growth retardation Abnormal lung lobation Epiphyseal stippling Hypopigmentation of hair Aplasia/Hypoplasia of the radius Ulnar deviation of finger Biparietal narrowing Atrioventricular canal defect Mesomelia Hyperkalemia Adrenal insufficiency Overlapping toe Abnormality of dental morphology Hyperbilirubinemia Bifid scrotum Unilateral renal agenesis Hammertoe Clitoral hypertrophy Hyponatremia Precocious puberty Poor suck Reduced number of teeth Optic nerve hypoplasia Scrotal hypoplasia Hypercholesterolemia Holoprosencephaly Thrombocytopenia Preauricular skin tag Headache Irritability Dental malocclusion Full cheeks Vitreoretinopathy Everted lower lip vermilion Flat face Genu valgum Arthrogryposis multiplex congenita Delayed epiphyseal ossification Blepharophimosis Apnea Pulmonary arterial hypertension Hypoplastic pelvis Myalgia Pes planus Disproportionate short-trunk short stature Elevated serum creatine phosphokinase Hypoplastic ilia Hyporeflexia Arrhythmia Enlarged joints Decreased testicular size Bowing of the long bones Respiratory insufficiency Skeletal muscle hypertrophy Trismus Blepharospasm Abnormal eyebrow morphology Malignant hyperthermia Sprengel anomaly Abnormality of the ureter Abnormality of immune system physiology Spinal rigidity High pitched voice Mask-like facies Nephrolithiasis Myotonia Overfolded helix Cachexia Glossoptosis Dysphonia Wormian bones EMG abnormality Bell-shaped thorax Increased bone mineral density Myopathy Coronal cleft vertebrae Distichiasis Bilateral renal hypoplasia Flattened, squared-off epiphyses of tubular bones Specific learning disability Abnormal cartilage collagen Wide nose Alopecia Deeply set eye Convex nasal ridge Synostosis of joints Crossed fused renal ectopia Foot oligodactyly Oligodontia Absent fingernail Absent toenail Synostosis of carpal bones Congenital hypothyroidism Absent thumb Mixed hearing impairment Hypoplasia of the ulna Ectropion Systemic lupus erythematosus Splayed epiphyses Open bite Skeletal muscle atrophy Hypoplastic labia minora Enlarged thorax Muscle weakness Lens luxation Onychogryposis of fingernail Naevus flammeus of the eyelid Euryblepharon Abnormality of the penis Ridged fingernail Rhegmatogenous retinal detachment Abnormality of the gingiva Long palpebral fissure Median cleft lip and palate Epispadias Fingernail dysplasia Femoral hernia Avascular necrosis of the capital femoral epiphysis Dumbbell-shaped long bone Anodontia Capillary hemangioma Lumbar kyphoscoliosis Abnormality of the pharynx Wrist flexion contracture Abnormality of the dentition Abnormality of pelvic girdle bone morphology Communicating hydrocephalus Retinal coloboma Diastasis recti Stenosis of the external auditory canal Short columella Broad neck Hypoplasia of the uterus Blurred vision Preauricular pit Disproportionate short-limb short stature Ureteral duplication Spina bifida occulta Intellectual disability, progressive Motor delay Narrow palate Wide anterior fontanel Short palpebral fissure Short metacarpal Brain atrophy Respiratory distress Anterior hypopituitarism Biliary tract abnormality Corneal opacity Intestinal fistula Cardiomyopathy Delayed speech and language development Anemia Neoplasm Pain Microtia, second degree Agenesis of maxillary lateral incisor Bilobate gallbladder Anterior chamber synechiae Square pelvis bone Abnormality of the pulmonary artery Facial hypertrichosis Aplasia/hypoplasia of the extremities Conical incisor Short lingual frenulum Hypoplasia of the vagina Birth length less than 3rd percentile Exaggerated cupid's bow Rieger anomaly Limited elbow movement Anal atresia Abnormal cardiac septum morphology Weak voice Abnormally straight spine Renal insufficiency Neonatal respiratory distress Spondyloepiphyseal dysplasia Flared metaphysis Short thorax Chorioretinal atrophy Peripheral neuropathy Arthropathy Tracheomalacia Long eyelashes in irregular rows Delayed puberty Elevated aldolase level Testicular torsion Odontogenic neoplasm Shoulder flexion contracture Pursed lips Metatarsus valgus Protrusio acetabuli Abnormally ossified vertebrae Flexion contracture of toe Joint dislocation Talipes Cleft lip Short 1st metacarpal Joint laxity Pes cavus Agenesis of corpus callosum Dilatation Cerebral atrophy Depressivity Abnormally low-pitched voice Phthisis bulbi Abnormality of the uterus Abnormality of the ulna Osteoarthritis Severe postnatal growth retardation Blepharitis Truncal obesity Retinopathy Obsessive-compulsive behavior Retinal detachment Atresia of the external auditory canal Bilateral single transverse palmar creases Primary amenorrhea Localized osteoporosis



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