High palate, and Spina bifida

Diseases related with High palate and Spina bifida

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

Top matches:

X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

Other less relevant matches:

Medium match FRASER SYNDROME

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

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

AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome|escobar variant multiple pterygium syndrome|evmps|escobar syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Top 5 symptoms//phenotypes associated to High palate and Spina bifida

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Spina bifida occulta Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Intellectual disability Epicanthus Wide nasal bridge Low-set ears Long philtrum Scoliosis Conductive hearing impairment Downslanted palpebral fissures Depressed nasal bridge Abnormality of the dentition Pulmonary hypoplasia Underdeveloped nasal alae Cryptorchidism Brachydactyly Flat face Facial asymmetry Inguinal hernia Generalized hypotonia Flexion contracture Frontal bossing Cleft lip Oral cleft Pectus excavatum Abnormality of cardiovascular system morphology Myelomeningocele Telecanthus Seizures

Rare Symptoms - Less than 30% cases

Failure to thrive Strabismus Congenital diaphragmatic hernia Aortic aneurysm Malar flattening Hypoplasia of penis Dimple chin Narrow naris Recurrent fractures Umbilical hernia Low-set, posteriorly rotated ears Finger syndactyly Hearing abnormality Arthrogryposis multiplex congenita Dental malocclusion Kyphoscoliosis Dental crowding Global developmental delay Broad forehead Mandibular prognathia Carious teeth Congenital contracture Abnormality of epiphysis morphology Limitation of joint mobility Pulmonic stenosis Pterygium Clinodactyly of the 5th finger Scrotal hypoplasia Abnormal heart morphology Clinodactyly Midface retrusion Short nose Increased number of teeth Alopecia Bifid tongue Vertebral segmentation defect Sleep apnea Ptosis Prominent forehead Anal atresia Ectopic anus Sprengel anomaly Low posterior hairline Wide intermamillary distance Webbed neck Postaxial polydactyly Cleft upper lip Abnormality of the pinna Cervical C2/C3 vertebral fusion Abnormality of the kidney Polydactyly Short neck Ventricular septal defect Cognitive impairment Sensorineural hearing impairment Synophrys Severe short stature Abnormal sacrum morphology Abnormality of the ribs Hernia Dilatation Abnormal facial shape Pancreatic cysts Overbite Growth delay Pain Breech presentation Trismus Cataract Abnormal auditory evoked potentials Malignant hyperthermia Spasticity Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Hip contracture Flexion contracture of toe Shoulder flexion contracture Ulnar deviation of the hand or of fingers of the hand Rocker bottom foot Whistling appearance Chin with H-shaped crease Intrauterine growth retardation Skeletal muscle atrophy Gait disturbance Hypogonadism Camptodactyly of finger Dolichocephaly Abnormality of the foot Trident hand Abnormality of movement Long face Nevus Mask-like facies Hypoplasia of the brainstem Neonatal respiratory distress Glaucoma Delayed CNS myelination Arthritis Deeply set eye Atrial septal defect Multiple epiphyseal dysplasia Narrow mouth Coronal cleft vertebrae Postnatal growth retardation Hypertonia Cerebellar atrophy Bilateral cleft palate Intellectual disability, severe Calcific stippling of infantile cartilaginous skeleton Myopathy Camptodactyly Blepharophimosis Respiratory insufficiency Joint contracture of the hand Sparse body hair Rheumatoid arthritis Epiphyseal stippling Nasal speech Adducted thumb Knee flexion contracture Intellectual disability, profound Small for gestational age Abnormality of the skin Talipes Severe failure to thrive Polysplenia Hip dislocation Concave nasal ridge Pointed chin Abnormality of toe Abnormality of the sternum Molar tooth sign on MRI Bifid uvula Hypoplasia of dental enamel Limb undergrowth Hepatic fibrosis Tongue nodules Microretrognathia Cutaneous syndactyly Polycystic kidney dysplasia Short distal phalanx of finger Talipes equinovarus Polymicrogyria Ichthyosis Lobulated tongue Dry skin Congenital cataract Abnormal cerebellum morphology Arachnoid cyst Upslanted palpebral fissure Porencephalic cyst Dry hair Ovarian cyst Abnormality of the pancreas Abnormal cortical gyration Median cleft lip Deviation of finger Atrioventricular canal defect Cerebral cortical atrophy Nephronophthisis Agenesis of permanent teeth Milia Severe global developmental delay Hypothalamic hamartoma Stage 5 chronic kidney disease Hepatic cysts Gray matter heterotopias Epiphyseal dysplasia Multiple pterygia Abnormality of the tongue Flared metaphysis Abnormality of metabolism/homeostasis Abnormal aortic valve morphology Rib fusion Antecubital pterygium Alveolar ridge overgrowth Aplasia/Hypoplasia of the abdominal wall musculature Symphalangism affecting the phalanges of the hand Abnormal eyelid morphology Aplasia/Hypoplasia of the skin Multiple glomerular cysts Popliteal pterygium Axillary pterygium Abnormality of the cerebral white matter Syndactyly Sparse hair Proteinuria Abnormality of the metaphysis Agenesis of corpus callosum Rhizomelia Depressivity Renal insufficiency Abnormality of skeletal morphology Hydrocephalus Tremor Dysarthria Hypertension Absence of labia majora Morphological abnormality of the gastrointestinal tract Radial deviation of finger Brachycephaly Fever Intussusception Blindness Pulmonary artery dilatation Generalized arterial tortuosity Pulmonary artery aneurysm Prominence of the premaxilla Multiple joint dislocation Arterial tortuosity Hypospadias Biventricular hypertrophy Pulmonary insufficiency Arterial stenosis Abnormality of the vasculature Soft skin Aortic root aneurysm Microphthalmia Toe syndactyly Cutis laxa Abnormal lung lobation Abnormal vagina morphology Vaginal atresia Bicornuate uterus Abnormal hair pattern Calvarial skull defect Tracheal stenosis External ear malformation Ambiguous genitalia Anal stenosis Anophthalmia Atresia of the external auditory canal Multicystic kidney dysplasia Encephalocele Omphalocele Renal hypoplasia Emphysema Narrow palpebral fissure Laryngeal stenosis Adrenal insufficiency Abnormality of the vertebral column Vertebral fusion Hemiplegia/hemiparesis Renal hypoplasia/aplasia Panhypopituitarism Hypopituitarism Aspiration Fused cervical vertebrae Growth hormone deficiency Delayed puberty Intellectual disability, moderate Coarse facial features Hypothyroidism Intellectual disability, mild Abnormal cranial nerve morphology Short sternum Joint dislocation Arachnodactyly Bradycardia Oligohydramnios Overgrowth Convex nasal ridge Bulbous nose Joint hypermobility Scarring Abnormality of the shoulder Joint laxity Proptosis Limited neck range of motion Decreased cervical spine mobility Abnormal vertebral segmentation and fusion Aplasia of the ulna Congenital muscular torticollis Subglottic stenosis Abnormality of the middle ear Muscle weakness Sloping forehead Coxa vara Abnormality of dental enamel Hemivertebrae Wormian bones Sinusitis Large fontanelles Delayed eruption of teeth Abnormality of pelvic girdle bone morphology Tapered finger High, narrow palate Genu valgum Narrow chest Skeletal dysplasia Osteoporosis Abnormality of the metacarpal bones Chronic otitis media Macrocephaly Abnormality of the thumb Neck muscle hypoplasia Cervical segmentation defect Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Rib segmentation abnormalities Dystrophic fingernails Open bite Dystrophic toenail Decreased skull ossification Hypoplastic scapulae Down-sloping shoulders Hypoplasia of the zygomatic bone Glossoptosis Short clavicles Recurrent respiratory infections Paroxysmal supraventricular tachycardia Female pseudohermaphroditism Abnormality of the skeletal system Thin upper lip vermilion Osteopenia Posteriorly rotated ears Delayed skeletal maturation Arrhythmia Anteverted nares Malformed lacrimal duct Tachycardia Midline nasal groove Lacrimal duct aplasia Wide pubic symphysis Cleft ala nasi Cryptophthalmos Urethral atresia Apnea Everted lower lip vermilion Prominent sternum Supraventricular tachycardia Anterior open bite Perimembranous ventricular septal defect Short 5th metacarpal Spondylolisthesis Wolff-Parkinson-White syndrome 11 pairs of ribs Pierre-Robin sequence Narrow forehead Obstructive sleep apnea Proportionate short stature Transposition of the great arteries Infantile muscular hypotonia Sandal gap Short toe Palpitations Pregnancy exposure


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