Microphthalmia, and Long philtrum

Diseases related with Microphthalmia and Long philtrum

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

Top matches:

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

Other less relevant matches:

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

High match MONOSOMY 9Q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Top 5 symptoms//phenotypes associated to Microphthalmia and Long philtrum

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Microphthalmia and Long philtrum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Low-set ears Short stature Hypertelorism Epicanthus Myopia Micrognathia Ventriculomegaly Generalized hypotonia Anteverted nares Telecanthus Failure to thrive Short neck Abnormality of dental enamel Hearing impairment Growth delay Visual impairment Atrial septal defect Posteriorly rotated ears Downslanted palpebral fissures Spasticity Muscular hypotonia Sensorineural hearing impairment Thin vermilion border Delayed eruption of teeth Abnormality of the dentition Postnatal microcephaly Frontal bossing Hypoplasia of the corpus callosum Delayed myelination Short nose High forehead

Rare Symptoms - Less than 30% cases

Pachygyria Micropenis Trigonocephaly Lissencephaly Pointed chin Oral cleft Webbed neck Highly arched eyebrow Wide nose Muscular hypotonia of the trunk Thin upper lip vermilion Retrognathia Accelerated skeletal maturation Corneal opacity Visual loss Clinodactyly Amblyopia Retinal detachment Sloping forehead Hypertonia Hyperactivity Upslanted palpebral fissure Status epilepticus Nystagmus Severe short stature Kyphosis Congenital cataract Short foot Small hand Joint hyperflexibility Deeply set eye Narrow mouth Delayed skeletal maturation Retinopathy Ptosis High palate Underdeveloped nasal alae Coloboma Retinal coloboma Depressed nasal bridge Feeding difficulties Microcornea Full cheeks Hypocalcemia External ear malformation Abnormality of the intervertebral disk Severe intrauterine growth retardation Aplasia/Hypoplasia of the lens Dysplastic aortic valve Left hemiplegia Cryptorchidism Intrauterine growth retardation Myopathy Recurrent respiratory infections Prominent forehead Hypogonadism Spinal canal stenosis Hypoplasia of penis Intestinal obstruction Low-set, posteriorly rotated ears Long toe Recurrent bacterial infections Small for gestational age Astigmatism Short palm Bifid uvula Growth hormone deficiency Convex nasal ridge Postnatal growth retardation Thickened helices Unilateral cryptorchidism Decreased body weight Depressivity Osteoporosis Osteopenia Pes planus Hyperlordosis Abnormal cardiac septum morphology Pectus carinatum Platyspondyly Sparse hair Acidosis Unsteady gait Mitral valve prolapse Lumbar hyperlordosis Low posterior hairline Dystonia Shield chest Hyperextensible skin Increased susceptibility to fractures Hemiplegia Preauricular pit Long fingers Subcapsular cataract Iris hypopigmentation Thoracic kyphosis Posterior subcapsular cataract Abnormal eyebrow morphology Abnormality of the antihelix Facial hypotonia Vertebral compression fractures Disproportionate short-trunk short stature Hypoparathyroidism Hyperphosphatemia Ventricular septal defect Abnormality of the ribs Opacification of the corneal stroma Microretrognathia Purpura Spastic tetraparesis Petechiae Increased CSF protein Congenital microcephaly Strabismus Macrocephaly Hydrocephalus Pectus excavatum Polydactyly Umbilical hernia Tall stature Decreased liver function Arnold-Chiari malformation Nephroblastoma Large for gestational age Basal cell carcinoma Abnormality of the vertebral column Medulloblastoma Rhabdomyosarcoma Metopic synostosis Palmar pits Calcification of falx cerebri Ovarian fibroma Thickened ears Plantar pits Odontogenic keratocysts of the jaw Cerebral visual impairment Tetraparesis Decreased circulating cortisol level Thrombocytopenia Tetany Aplasia/Hypoplasia affecting the eye Cellular immunodeficiency Hypocalcemic seizures Congenital hypoparathyroidism Patchy osteosclerosis Anemia Hyperreflexia Hepatomegaly Fever Cardiomyopathy Intellectual disability, severe Splenomegaly Renal insufficiency Cerebellar hypoplasia Intellectual disability, profound Cerebral cortical atrophy Jaundice Hepatosplenomegaly Elevated hepatic transaminase Hypertrophic cardiomyopathy Abnormality of the liver Skin rash Generalized tonic-clonic seizures Abnormality of movement Polymicrogyria Tetraplegia Gliosis Neuronal loss in central nervous system Cerebral calcification Lactic acidosis Melanonychia Muscle weakness Basal ganglia calcification Hypoplasia of the maxilla Triangular face Dental malocclusion Overgrowth Short palpebral fissure Fine hair Sparse scalp hair Large fontanelles Dental crowding Sparse eyelashes Abnormality of dental morphology Hyperostosis Long nose Narrow nose Hypoplasia of dental enamel Spinal cord compression Mild global developmental delay Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Ectodermal dysplasia Hypertension Bilateral sensorineural hearing impairment Gingival overgrowth Hypodontia Odontoma Abnormal heart morphology Agenesis of corpus callosum Abnormality of molar morphology Abnormality of canine Abnormality of the maxilla Cleft lip Abnormality of the pinna Joint stiffness Wide mouth Arthrogryposis multiplex congenita Otitis media with effusion Agenesis of premolar Lens coloboma High-frequency sensorineural hearing impairment Toe syndactyly Heterotopia Pulp stones Macrodontia High-frequency hearing impairment Long palpebral fissure Periodontitis Delayed speech and language development Taurodontia Syndactyly Ankylosis Increased number of teeth Brachycephaly Progressive sensorineural hearing impairment Progressive hearing impairment Talipes equinovarus Hernia Hepatic failure Anophthalmia Metabolic acidosis Subcutaneous nodule Thickened skin Bulbous nose Abnormality of retinal pigmentation Lymphedema Skin ulcer Abnormality of the hair Muscle stiffness Venous thrombosis Abnormality of vision Scaling skin Pleural effusion Cellulitis Lymphoma Underdeveloped supraorbital ridges Abnormal eyelash morphology Gangrene Abnormal eyelid morphology Abnormal toenail morphology Retinal dysplasia Abnormality of the optic nerve Leukonychia Chylothorax Abnormal nasolacrimal system morphology Erysipelas Panniculitis Chorioretinal dysplasia Abnormality of the dental pulp Specific learning disability Aciduria Iris coloboma Ureteral duplication Long face Wide intermamillary distance Renal agenesis Tetralogy of Fallot Optic disc pallor Congenital diaphragmatic hernia Ventricular hypertrophy Pulmonary arterial hypertension Spontaneous abortion Short chin Sandal gap Erythroderma Aplasia cutis congenita Carious teeth Thick vermilion border Wide nasal bridge Optic atrophy Edema Blindness Adducted thumb Tented upper lip vermilion Glaucoma Rigidity Abnormality of the eye Protruding ear Infantile muscular hypotonia Leukemia Dry skin Retinal dystrophy Cardiac fibroma


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