Cleft palate, and Ptosis

Diseases related with Cleft palate and Ptosis

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


Top matches:

Low match HOLOPROSENCEPHALY 4; HPE4


A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.

Related symptoms:

  • Ptosis
  • Depressed nasal bridge
  • Hypotelorism
  • Median cleft lip
  • Depressed nasal tip


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 4; HPE4

Low match UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY


Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

Low match AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME


Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.

AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME Is also known as distal arthrogryposis type 8|multiple pterygium syndrome, autosomal dominant|pterygium syndrome, multiple, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Ptosis
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME

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Other less relevant matches:

Low match MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

Low match MECKEL SYNDROME, TYPE 10; MKS10


Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Low match LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME


Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

Low match WAARDENBURG SYNDROME TYPE 1


Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.

WAARDENBURG SYNDROME TYPE 1 Is also known as waardenburg syndrome type i|ws1

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 1

Low match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Low match JOUBERT SYNDROME 26; JBTS26


Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Low match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Top 5 symptoms//phenotypes associated to Cleft palate and Ptosis

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Seizures Flexion contracture Arthrogryposis multiplex congenita Knee flexion contracture Muscle weakness High palate Motor delay Facial palsy Short nose Frontal bossing Depressed nasal bridge Short stature Hypospadias Micropenis Exotropia Molar tooth sign on MRI Neonatal hypotonia Anteverted nares Hydrocephalus Synophrys Nystagmus Oral cleft Coloboma Cleft lip Intellectual disability Strabismus Hypotelorism Visual impairment Cleft upper lip Microphthalmia Intellectual disability, severe Left ventricular noncompaction Midface retrusion Upslanted palpebral fissure Macrotia Hypermetropia Broad forehead Abnormality of the skeletal system Astigmatism Microcornea Cleft soft palate Narrow forehead Holoprosencephaly Deep philtrum Trigonocephaly Abnormal levels of creatine kinase in blood Webbed neck Macrocephaly Sprengel anomaly Aganglionic megacolon Abnormality of the hair Spina bifida Hypopigmented skin patches Tented upper lip vermilion Abnormality of vision Congenital sensorineural hearing impairment Premature graying of hair Hypopigmentation of hair Meningocele Absent thumb Heterochromia iridis White hair White forelock Minicore myopathy Lacrimation abnormality White eyelashes White eyebrow Microcephaly Increased endomysial connective tissue Abnormal facial shape Single median maxillary incisor Abnormality of digit Congestive heart failure Panhypopituitarism Central hypothyroidism Ectopic posterior pituitary Inferior vermis hypoplasia Ventricular septal defect Cardiomyopathy Atrial septal defect Myopathy Arrhythmia Recurrent upper respiratory tract infections Elevated serum creatine phosphokinase Abnormal cardiac septum morphology Calf muscle hypertrophy Congenital muscular dystrophy Radioulnar synostosis Hip dislocation Muscular dystrophy Dilated cardiomyopathy Bilateral ptosis Cone/cone-rod dystrophy Facial cleft Centrally nucleated skeletal muscle fibers Scaphocephaly Generalized muscle weakness Cyclopia Proboscis Small posterior fossa Ankle contracture Difficulty running Exencephaly Ataxia Tachypnea Recurrent infections Cerebellar hypoplasia Underdeveloped nasal alae Difficulty climbing stairs Growth hormone deficiency Myopathic facies Apraxia Oculomotor apraxia Hypothyroidism Cholestasis Thick eyebrow Nasal speech Low-set, posteriorly rotated ears Camptodactyly Craniosynostosis Elbow flexion contracture Hemivertebrae Cutaneous syndactyly Abnormal palate morphology Pterygium Vertebral fusion Syndactyly Hip contracture Distal arthrogryposis Spondylolisthesis Multiple pterygia Feeding difficulties Fatigue Dysphagia Respiratory insufficiency Pectus excavatum Short neck Epicanthus Glaucoma Median cleft lip Depressed nasal tip Median cleft lip and palate Semilobar holoprosencephaly Absent nasal septal cartilage Sensorineural hearing impairment Cataract Optic atrophy Corneal opacity Downslanted palpebral fissures Iris coloboma Hematuria Retinal detachment Chorioretinal coloboma Posterior embryotoxon Bilateral cleft lip Bilateral cleft lip and palate Neural tube defect Limb muscle weakness Patent ductus arteriosus Abnormality of the eye Ragged-red muscle fibers Lactic acidosis Hepatic steatosis Increased serum lactate Bradykinesia Tetraparesis Muscle stiffness Spastic tetraparesis Leukoencephalopathy Macrovesicular hepatic steatosis Abnormality of the cerebral white matter Decreased activity of mitochondrial complex I Dysplastic corpus callosum Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex IV Wide nasal bridge Abnormality of cardiovascular system morphology Mandibular prognathia Telecanthus Ophthalmoplegia Irritability Polydactyly Occipital encephalocele Retrognathia Abnormality of the pinna Postaxial polydactyly Renal cyst Encephalocele Heterotopia Narrow palpebral fissure Sacral dimple Anencephaly Developmental regression Failure to thrive Spasticity Hepatomegaly Hypoplasia of the corpus callosum Dystonia Absent speech Acidosis Elevated hepatic transaminase Mitochondrial depletion



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