Ptosis, and Spina bifida

Diseases related with Ptosis and Spina bifida

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


Top matches:

Low match CRANIOSYNOSTOSIS 6; CRS6


Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 6; CRS6

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 3MC SYNDROME


3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC SYNDROME

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Other less relevant matches:

Low match CLOVES SYNDROME


CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.

CLOVES SYNDROME Is also known as cloves syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|clove syndrome|congenital lipomatous overgrowth,

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Cataract
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLOVES SYNDROME

Low 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

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 ACROMELIC FRONTONASAL DYSPLASIA


Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

Low match JOUBERT SYNDROME 1; JBTS1


Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv|jbts|cpd4|joubert syndrome|cerebellooculorenal syndrome 1|cors1|joubert-boltshauser syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 1; JBTS1

Low match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

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

Top 5 symptoms//phenotypes associated to Ptosis and Spina bifida

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Telecanthus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Coloboma Generalized hypotonia Hearing impairment Microcephaly Nystagmus Abnormal facial shape Low-set ears Epicanthus Microphthalmia Short nose Cerebellar vermis hypoplasia Encephalocele Glaucoma Abnormality of the eye Oral cleft Mandibular prognathia Seizures Meningocele Highly arched eyebrow Wide nasal bridge Cleft palate Dandy-Walker malformation Macrocephaly Spina bifida occulta Craniosynostosis Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases


Hydrocephalus Micrognathia Malar flattening Intellectual disability, severe Prominent forehead Anteverted nares Ataxia Abnormality of the skeletal system Cataract Narrow forehead Hypoplasia of the brainstem Absent speech Deeply set eye Polydactyly Prominent nasal bridge Abnormality of eye movement Renal cyst Upslanted palpebral fissure Open mouth Hypoplasia of the corpus callosum Molar tooth sign on MRI Occipital encephalocele High palate Talipes equinovarus Depressed nasal bridge Chorioretinal coloboma Breathing dysregulation Cryptorchidism Downturned corners of mouth Brachycephaly Muscular hypotonia Sensorineural hearing impairment Ventriculomegaly Synophrys Downslanted palpebral fissures Cerebellar atrophy Postnatal growth retardation Blepharophimosis Cleft upper lip Underdeveloped nasal alae High forehead Hip dislocation Tented upper lip vermilion Meningoencephalocele Muscle weakness Central apnea Failure to thrive Agenesis of cerebellar vermis Abnormal pattern of respiration Abnormal saccadic eye movements Short stature Elongated superior cerebellar peduncle Abnormality of ocular smooth pursuit Hemifacial spasm Episodic tachypnea Dysgenesis of the cerebellar vermis Brainstem dysplasia Triangular-shaped open mouth Impaired smooth pursuit Neonatal breathing dysregulation Occipital myelomeningocele Enlarged fossa interpeduncularis Optic nerve coloboma Oculomotor apraxia Retinal dysplasia Abnormality of the kidney Choroid plexus cyst Dermoid cyst Aplasia/Hypoplasia of the tibia Hypoplasia of the olfactory bulb Midline central nervous system lipomas Abnormality of the glabella Cognitive impairment Tremor Cerebellar hypoplasia Hyperactivity Aggressive behavior Apnea Self-mutilation Abnormality of the foot Abnormality of skin pigmentation Long face Retinal dystrophy Macroglossia Postaxial hand polydactyly Apraxia Heterotopia Hepatic fibrosis Tachypnea Protruding tongue Flexion contracture Short neck Fever Microcornea Overbite Flexion contracture of toe Abnormal auditory evoked potentials Ulnar deviation of the hand or of fingers of the hand Shoulder flexion contracture Whistling appearance Chin with H-shaped crease Midface retrusion Macrotia Broad forehead Hypermetropia Astigmatism Hypotelorism Breech presentation Exotropia Holoprosencephaly Deep philtrum Trigonocephaly Absent thumb Abnormality of digit Facial cleft Scaphocephaly Single median maxillary incisor Cyclopia Proboscis Small posterior fossa Dimple chin Trismus Retrocerebellar cyst Dental malocclusion Myopathy Hypertonia Long philtrum Inguinal hernia Narrow mouth Kyphoscoliosis Arthritis Camptodactyly Small for gestational age Arthrogryposis multiplex congenita Talipes Flat face Abnormality of the skin Malignant hyperthermia Intellectual disability, profound Joint contracture of the hand Knee flexion contracture Adducted thumb Nasal speech Pterygium Rheumatoid arthritis Congenital contracture Rocker bottom foot Mask-like facies Hip contracture Atrophy/Degeneration affecting the brainstem Distal arthrogryposis Decreased lacrimation Patellar hypoplasia Median cleft palate Epididymal cyst Hemihypertrophy Tethered cord Spinal dysraphism Cranial hyperostosis Venous malformation Capillary malformation Cranial asymmetry Epidermal nevus Hemimegalencephaly Macrodactyly Encephalomalacia Splayed toes Lipoma Enlarged peripheral nerve Pelvic mass Umbilical hernia Growth delay Hypertension White eyebrow White eyelashes Lacrimation abnormality White forelock White hair Heterochromia iridis Pneumonia Lower limb asymmetry Lipoatrophy Sprengel anomaly Hyperlordosis Radioulnar synostosis Bilateral cryptorchidism Supernumerary nipple Diastasis recti Abnormal anterior chamber morphology Abnormal nasal morphology Epicanthus inversus Caudal appendage Large fleshy ears Limited pronation/supination of forearm Prominent coccyx Abnormality of the pinna Splenomegaly Partial agenesis of the corpus callosum Constipation Hypoglycemia Congenital cataract Facial asymmetry Nevus Renal agenesis Overgrowth Generalized-onset seizure Insulin resistance Horizontal nystagmus Sandal gap Renal hypoplasia/aplasia Posteriorly rotated ears Hypopigmentation of hair Large sella turcica Hypopituitarism Low anterior hairline Hyperkeratosis Wide mouth Sparse hair Broad nasal tip Short palpebral fissure Depressed nasal ridge Large fontanelles Hypohidrosis Sparse and thin eyebrow Sparse eyelashes Median cleft lip Alopecia Coronal craniosynostosis Abnormal toenail morphology Calvarial skull defect Upper airway obstruction Preaxial foot polydactyly Bifid nasal tip Alopecia totalis Bifid nose Broad columella Thick nasal alae Anterior pituitary hypoplasia Parietal foramina Hyperhidrosis Plagiocephaly Irritability Optic atrophy Premature graying of hair Short philtrum Congenital sensorineural hearing impairment Abnormality of vision Postaxial polydactyly Hypopigmented skin patches Abnormality of the hair Aganglionic megacolon Thick eyebrow Multiple renal cysts Morning glory anomaly Visual impairment Cleft lip Delayed cranial suture closure Corneal opacity Iris coloboma Hematuria Retinal detachment Abnormality of cardiovascular system morphology Posterior embryotoxon Bilateral cleft lip Bilateral cleft lip and palate Neural tube defect Anterior plagiocephaly Turricephaly Myopia Exencephaly



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