Microphthalmia, and High, narrow palate

Diseases related with Microphthalmia and High, narrow palate

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


Top matches:

High match HEART AND BRAIN MALFORMATION SYNDROME; HBMS


Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

High match COHEN SYNDROME


Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about COHEN SYNDROME

High match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

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Other less relevant matches:

High match MICROPHTHALMIA, LENZ TYPE


Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, LENZ TYPE

High match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

High match 15Q24 MICRODELETION SYNDROME


15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

High match OCULOFACIOCARDIODENTAL SYNDROME


Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.

OCULOFACIOCARDIODENTAL SYNDROME Is also known as oculofaciocardiodental syndrome|anop2, formerly|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|microphthalmia, cataracts, radiculomegaly, and septal heart defects|maa2, formerly|ofcd syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOFACIOCARDIODENTAL SYNDROME

High match GORLIN-CHAUDHRY-MOSS SYNDROME


Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

High match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

High match YUNIS-VARON SYNDROME


Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and High, narrow palate

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
High palate Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Microphthalmia and High, narrow palate. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the pinna

Common Symptoms - More than 50% cases


Hypospadias

Uncommon Symptoms - Between 30% and 50% cases


Narrow mouth

Common Symptoms - More than 50% cases


Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Iris coloboma

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Posteriorly rotated ears Abnormal heart morphology Strabismus Atrial septal defect Anteverted nares Abnormality of cardiovascular system morphology Feeding difficulties Long philtrum Sclerocornea Pectus excavatum Ptosis Cataract Depressed nasal bridge Nystagmus Intellectual disability, severe Hydrocephalus Failure to thrive Micropenis Syndactyly Cleft palate Postnatal growth retardation Arachnodactyly Intellectual disability, mild Clinodactyly of the 5th finger Short philtrum Toe syndactyly Abnormality of the dentition Camptodactyly of finger Polyhydramnios Camptodactyly Muscular hypotonia Motor delay Hypermetropia Tetralogy of Fallot Sparse hair Upslanted palpebral fissure Macrotia Long face Thin upper lip vermilion Protruding ear Flexion contracture Inguinal hernia Epicanthus Pulmonary hypoplasia Abnormality of the skeletal system Pyloric stenosis Joint contracture of the hand Coloboma Short palpebral fissure Renal hypoplasia Renal agenesis Bifid uvula Bicuspid aortic valve Ventriculomegaly Attention deficit hyperactivity disorder Blepharophimosis Aggressive behavior Hydronephrosis Retrognathia Cerebellar hypoplasia Nasal speech Delayed speech and language development Narrow face Short nose Prominent nasal bridge Kyphosis Obesity Feeding difficulties in infancy Wide anterior fontanel Dandy-Walker malformation Abnormal cardiac septum morphology Sensorineural hearing impairment Small nail Short thumb Tapered finger Downslanted palpebral fissures Patent ductus arteriosus Hypoplasia of the maxilla Interphalangeal joint contracture of finger Cerebellar vermis hypoplasia Umbilical hernia Wide nasal bridge

Rare Symptoms - Less than 30% cases


Respiratory distress Chorioretinal coloboma Delayed eruption of teeth Proximal placement of thumb Proptosis Abnormality of dental morphology Hypertension Microcornea Cupped ear Craniosynostosis Clinodactyly Microtia Absent nipple Blindness Anonychia Pachygyria Dilatation Glaucoma Anal atresia Sparse scalp hair Autism Low-set, posteriorly rotated ears Autistic behavior Low posterior hairline Pulmonary arterial hypertension Astigmatism Anophthalmia Spastic diplegia Oligodontia Severe global developmental delay Anteverted ears Brachydactyly Triangular face Bulbous nose Hypertonia Hydroureter Immunodeficiency Recurrent infections Hernia Mandibular prognathia Brachycephaly Pes cavus High forehead Deeply set eye Smooth philtrum Exotropia Thin vermilion border Polymicrogyria Behavioral abnormality Highly arched eyebrow Single transverse palmar crease Misalignment of teeth Sparse and thin eyebrow Abnormality of digit Hypothyroidism Short clavicles Mild short stature Bilateral cryptorchidism Intestinal malrotation Radial deviation of finger Submucous cleft hard palate Broad forehead Dextrocardia Macrodontia Aplasia/Hypoplasia of the corpus callosum Hyperreflexia Joint stiffness Abnormality of the kidney Kyphoscoliosis Hyperactivity Severe short stature Agenesis of corpus callosum Prominent metopic ridge Thick eyebrow Short neck Talipes equinovarus Skeletal muscle atrophy Visual impairment Thick hair Cerebral atrophy Abnormal eyelid morphology Cubitus valgus Failure to thrive in infancy Interrupted aortic arch Hand clenching Sandal gap Low anterior hairline Preauricular skin tag Sepsis Finger syndactyly Neurological speech impairment Genu valgum Joint hyperflexibility Open mouth Specific learning disability Mitral valve prolapse Thick lower lip vermilion Metatarsus adductus Situs inversus totalis Everted lower lip vermilion Muscular hypotonia of the trunk Renal hypoplasia/aplasia Abnormality of the urinary system Cleft lip Gastroesophageal reflux Brain atrophy Renal dysplasia Radioulnar synostosis Acne Inflammation of the large intestine Oligohydramnios Unilateral renal agenesis Psoriasiform dermatitis Tricuspid regurgitation Rheumatoid arthritis Autoimmune hemolytic anemia Arnold-Chiari malformation Schizophrenia Purpura Hypocalcemia Hypertrichosis Spina bifida Amblyopia Broad thumb Heterotopia Cholelithiasis Posterior embryotoxon Microdontia Short distal phalanx of finger Graves disease Synophrys Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Seborrheic dermatitis Juvenile rheumatoid arthritis Abnormality of the foot Tetany Convex nasal ridge Myelomeningocele Truncus arteriosus Meningocele Hypoparathyroidism Vitiligo Bipolar affective disorder Primary amenorrhea Autoimmune thrombocytopenia Prominent forehead Chorea Coarctation of aorta Premature skin wrinkling Absence of subcutaneous fat Dermal translucency Coarse hair Hypoplasia of the musculature Redundant skin Pneumothorax Aortic aneurysm Deep palmar crease Prominent superficial veins Coronal craniosynostosis Recurrent aspiration pneumonia Abnormality of the skull Turricephaly Underdeveloped supraorbital ridges Protruding tongue Hypoplastic nipples Prematurely aged appearance Anteriorly placed anus Natal tooth Reduced subcutaneous adipose tissue Abnormality of vision Upper eyelid coloboma Amenorrhea Arthritis Large hands Hemolytic anemia Generalized tonic-clonic seizures Recurrent urinary tract infections Autoimmunity Left ventricular hypertrophy Generalized hirsutism Scrotal hypoplasia Telecanthus Thrombocytopenia Absent distal phalanges Fever Anemia Cognitive impairment Neoplasm Aplasia/Hypoplasia of the nasal bone Aplastic/hypoplastic lacrimal glands Abnormality of the metacarpal bones Hypoplasia of the abdominal wall musculature Wide nasal ridge Congenital craniofacial dysostosis Aplasia of the thymus Perimembranous ventricular septal defect Small earlobe Hypoplasia of the frontal lobes Multiple skeletal anomalies Aplasia/Hypoplasia of the middle phalanges of the hand Generalized neonatal hypotonia Short upper lip Increased nuchal translucency Wide cranial sutures Arrhinencephaly Congenital microcephaly Aplastic clavicle Bilateral microphthalmos Renal artery stenosis Premature loss of primary teeth Aplasia/Hypoplasia of the nipples Redundant neck skin Abnormality of the neck Decreased skull ossification Hypoplastic scapulae Hypoplastic labia majora Abnormality of finger Severe failure to thrive Glossoptosis Inverted nipples Renovascular hypertension Aplasia/Hypoplasia of the distal phalanges of the hand Abnormality of blood and blood-forming tissues Short proximal phalanx of hallux Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the proximal phalanx of the hallux Narrow nasal base Aplasia/Hypoplasia of the scapulae Abnormality of dental structure Abnormality of the occipital bone Abnormal parietal bone morphology Tapered toe Abnormal pelvis bone morphology Shortening of all distal phalanges of the toes Aplasia/Hypoplasia of the nails Aplasia of the 1st metacarpal Slender long bones with narrow diaphyses Aplasia/Hypoplasia of the hallux Bilateral external ear deformity Absent sternal ossification Broad secondary alveolar ridge Generalized hypotrichosis Abnormality of the scapula Gingival recession Aplasia/Hypoplasia of the clavicles Hypoplastic facial bones Aplasia/Hypoplasia of the thumb Thin ribs Femoral hernia Esophoria Edema Cardiomyopathy Macrocephaly Hepatomegaly Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Right aortic arch with mirror image branching Irritability Arteria lusoria Conotruncal defect Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Alcoholism Hypertrophic cardiomyopathy Hip dislocation Severe hearing impairment Sparse eyelashes Absent thumb Short finger Aplasia/Hypoplasia of the eyebrow Flared metaphysis Short middle phalanx of finger Rocker bottom foot Absent eyebrow Clitoral hypertrophy Sparse eyebrow Abnormality of pelvic girdle bone morphology Tented upper lip vermilion Short chin Dolichocephaly Short ribs Short toe Hydrops fetalis Short phalanx of finger Large fontanelles Cardiomegaly Neuronal loss in central nervous system Premature birth Hypodontia Hypopigmentation of the skin Hypotrichosis Platyspondyly Remnants of the hyaloid vascular system Abnormality of the eye Malar flattening Abnormality of the nervous system Anxiety Aplasia/Hypoplasia of the earlobes Chorioretinal dystrophy Diabetes mellitus Narrow palm Aplasia/Hypoplasia of the tongue Alopecia Cat cry Slender toe Spastic paraplegia Spasticity Ciliary body coloboma Agenesis of maxillary lateral incisor Abnormal palmar dermatoglyphics Complete duplication of thumb phalanx Long thorax Abnormality of the shoulder Ankyloblepharon Rectal prolapse Shield chest Hypoplasia of the zygomatic bone Abnormal eyelash morphology Myopathy Ankylosis Phimosis Moderately short stature Gingival overgrowth Broad columella Thin eyebrow Heterotaxy Abnormality of the rib cage Small face Abnormality of the thumb Sparse lateral eyebrow Sprengel anomaly Paraplegia High hypermetropia Poor suck Cachexia Reduced number of teeth Abnormality of the hair Abnormality of the ribs Decreased testicular size Prominent nose Abnormality of the hip bone Weak cry Optic nerve coloboma Areflexia Narrow foot Abnormality of the penis Multicystic kidney dysplasia Congenital contracture Myotonia Hypoplasia of the brainstem Mask-like facies Abnormal anatomic location of the heart Fixed facial expression Aplasia/Hypoplasia involving the skeletal musculature Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the cerebellar vermis Hyperlordosis Congenital ptosis Limb joint contracture Epispadias Primitive reflex Abnormality of the upper urinary tract Colpocephaly Distal arthrogryposis Restlessness Absent septum pellucidum Abnormality of the sternum Abnormality of the face Abnormal form of the vertebral bodies Down-sloping shoulders Muscle stiffness Abnormality of the clavicle Self-mutilation External ear malformation Agenesis of permanent teeth Respiratory tract infection Clubbing Overfolded helix Pectus carinatum Self-injurious behavior Muscular dystrophy Dental crowding Narrow chest Aganglionic megacolon Recurrent otitis media Lumbar hyperlordosis Wide intermamillary distance Webbed neck Arthrogryposis multiplex congenita Talipes Cleft upper lip Oral cleft Peripheral demyelination Round ear Decreased head circumference Conductive hearing impairment Broad nasal tip Heart murmur Ectopia lentis Abnormal palate morphology Spastic paraparesis Aortic valve stenosis Global brain atrophy Decreased body weight Dental malocclusion Prominent occiput Retinal detachment 2-3 toe syndactyly Pulmonic stenosis Congenital cataract Poor eye contact Hyperactive deep tendon reflexes Visual loss Vomiting Abnormality of the proximal phalanx of the thumb Medial flaring of the eyebrow Gastrointestinal atresia Conspicuously happy disposition Hammertoe Adrenal insufficiency Large fleshy ears Transverse vaginal septum Delayed skeletal maturation Midface retrusion Narrow forehead Respiratory insufficiency Muscle weakness Laterally curved eyebrow Flexion contracture of the 2nd toe Flexion contracture of the 4th toe Multiple unerupted teeth Fused teeth Asymmetry of the ears Broad palm Septate vagina Phthisis bulbi Decreased muscle mass Single median maxillary incisor Persistence of primary teeth Peripheral pulmonary artery stenosis Bifid nasal tip Asplenia Double outlet right ventricle Increased number of teeth Long palm Dysplastic corpus callosum Abnormal hair laboratory examination Short palm Fine hair Congenital diaphragmatic hernia Growth hormone deficiency Underdeveloped nasal alae Delayed myelination Myopia Sleep disturbance Optic atrophy Small hand Wide nose Delayed puberty Cafe-au-lait spot Facial asymmetry Small for gestational age Developmental regression Joint laxity Abnormality of skin pigmentation Hypogonadism Neutropenia Decreased fetal movement Long eyelashes Abnormality of retinal pigmentation Abnormality of the genital system Delayed CNS myelination Anisocoria Thick upper lip vermilion Flared nostrils Toe clinodactyly Deep plantar creases Thick nasal alae Unilateral cryptorchidism Abnormality of nervous system morphology Wide nasal base Intestinal atresia Microphallus Overlapping fingers High anterior hairline Hoarse voice Insomnia Widow's peak Slender finger Abnormality of the thorax Abnormality of the voice Abnormality of the outer ear Widely spaced teeth Microretrognathia Pointed chin Bilateral single transverse palmar creases Aplasia of the distal phalanx of the hallux



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Retrognathia, related diseases and genetic alterations

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