Ptosis, and Malar flattening

Diseases related with Ptosis and Malar flattening

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


Top matches:

High match CRANIOFACIAL-DEAFNESS-HAND SYNDROME


Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

High match HOLOPROSENCEPHALY 3; HPE3


HOLOPROSENCEPHALY 3; HPE3 Is also known as hlp3

Related symptoms:

  • Microcephaly
  • Strabismus
  • Ptosis
  • Depressed nasal bridge
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 3; HPE3

High 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

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Other less relevant matches:

High match JACKSON-WEISS SYNDROME; JWS


JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

High match HOLOPROSENCEPHALY 2; HPE2


A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

High match SCLEROSTEOSIS


Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

High match GABRIELE-DE VRIES SYNDROME


Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

High match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

High match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS


NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

High match JOUBERT SYNDROME 14; JBTS14


Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Top 5 symptoms//phenotypes associated to Ptosis and Malar flattening

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Abnormal facial shape Low-set ears Downslanted palpebral fissures Posteriorly rotated ears Coloboma Epicanthus Hearing impairment Nystagmus Microphthalmia Abnormality of the skeletal system Syndactyly Mandibular prognathia Telecanthus Short nose Wide nasal bridge Sensorineural hearing impairment Cleft palate

Rare Symptoms - Less than 30% cases


Camptodactyly Brachydactyly Frontal bossing Hydrocephalus Proptosis Scoliosis Abnormality of the pinna Short stature Growth delay Cryptorchidism Delayed speech and language development Abnormality of the dentition Absent speech Cognitive impairment High forehead Craniosynostosis Macrocephaly Cataract Cyclopia Generalized hypotonia Seizures Tented upper lip vermilion Shallow orbits Proboscis Headache Single median maxillary incisor Flexion contracture Abnormality of the nose Hypoplasia of the maxilla Flat face Camptodactyly of finger Narrow mouth Clinodactyly Microcephaly Astigmatism Hypotelorism Micrognathia Exotropia Holoprosencephaly Microcornea Tremor Feeding difficulties Lacrimal duct stenosis Mild intrauterine growth retardation Meningocele Intellectual disability, mild Long philtrum Cerebral atrophy Upslanted palpebral fissure Brachycephaly Thin upper lip vermilion Esophageal atresia Microtia Nail dystrophy Congenital cataract Smooth philtrum Thin vermilion border Occipital encephalocele Cortically dense long tubular bones Molar tooth sign on MRI Periorbital fullness Multiple renal cysts Ventriculomegaly Abnormality of the cerebral white matter Intrauterine growth retardation Behavioral abnormality Dystonia Breathing dysregulation Hypothyroidism Anxiety Joint laxity Broad forehead Facial asymmetry Long fingers Gliosis Delayed myelination Encephalocele Waddling gait Thick lower lip vermilion Pointed chin High palate Sparse eyebrow Tapered finger Sparse scalp hair Open mouth Lisch nodules Abnormality of the eye Deeply set eye Relative macrocephaly Cubitus valgus Neurofibromas Freckling Multiple cafe-au-lait spots Acute lymphoblastic leukemia Broad neck Secundum atrial septal defect Axillary freckling Irritability Superior pectus carinatum Prominent nasolabial fold Optic nerve glioma Pectus excavatum of inferior sternum Inguinal freckling Polydactyly Ataxia Hypertension Pneumonia Intellectual disability, severe Curved distal phalanges of the hand Short philtrum Cerebellar vermis hypoplasia Craniofacial asymmetry Dandy-Walker malformation Renal cyst Highly arched eyebrow Radioulnar synostosis Mild short stature Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Broad philtrum Broad eyebrow Muscle weakness Prominent nasal bridge Postaxial polydactyly Short neck Atrial septal defect Leukemia Pulmonic stenosis Webbed neck Wide intermamillary distance Specific learning disability Low posterior hairline Cafe-au-lait spot Abnormality of eye movement Facial palsy secondary to cranial hyperostosis Hyperactivity Sclerotic scapulae Localized osteoporosis Anal stenosis Fibroma Toe clinodactyly Abnormal oral frenulum morphology Camptodactyly of toe Mesomelic arm shortening Mesomelic leg shortening Localized skin lesion Abnormal foot bone ossification Abnormal hand bone ossification Genu valgum Short toe Convex nasal ridge Epidermal acanthosis Acanthosis nigricans Abnormal palate morphology Short metatarsal 2-3 toe syndactyly Broad hallux Underdeveloped supraorbital ridges Split foot Turricephaly Preaxial foot polydactyly Multiple joint contractures Iris coloboma Symphalangism affecting the phalanges of the hand Ulnar deviation of the hand Blepharophimosis Wide nose High, narrow palate Bilateral sensorineural hearing impairment Interphalangeal joint contracture of finger Depressed nasal ridge Narrow face Congenital sensorineural hearing impairment Ulnar deviation of finger Abnormality of the wrist Lacrimal duct atresia Abnormality of skin pigmentation Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Aplasia/Hypoplasia involving the nose Limited wrist movement Dilatation Hydronephrosis Hypermetropia Hypoplasia of the fovea Abdominal situs ambiguus Osteoporosis Skeletal dysplasia Broad hallux phalanx Abnormality of fibula morphology 2-3 finger syndactyly Constriction of peripheral visual field Dental malocclusion Esotropia Nail dysplasia Overgrowth Tall stature Increased bone mineral density Cutaneous syndactyly Increased intracranial pressure Anosmia Abnormality of pelvic girdle bone morphology Hyperostosis Paralysis Abnormal cranial nerve morphology Broad ribs Abnormal cortical bone morphology Craniofacial hyperostosis Fingernail dysplasia Diaphyseal thickening Deviation of finger Esodeviation Broad clavicles Sclerotic vertebral endplates Trigeminal neuralgia Finger syndactyly Facial palsy Anterior plagiocephaly Bifid uvula Craniofacial dysostosis Broad metatarsal Hallux varus Calcaneonavicular fusion Muscular hypotonia Anteverted nares Constipation Cerebellar hypoplasia Agenesis of corpus callosum Cleft lip Diabetes insipidus Visual loss Narrow nasal bridge Submucous cleft hard palate Adrenal hypoplasia Chronic constipation Median cleft lip and palate Single ventricle Hypoplastic philtrum Absent nasal septal cartilage Aplasia of the nose Anterior pituitary agenesis Optic atrophy Morning glory anomaly



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