Abnormal facial shape, and High myopia

Diseases related with Abnormal facial shape and High myopia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and High myopia that can help you solving undiagnosed cases.


Top matches:

Medium match STICKLER SYNDROME, TYPE IV; STL4


Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Myopia
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about STICKLER SYNDROME, TYPE IV; STL4

Medium match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Medium match PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME


Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

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Other less relevant matches:

Medium match MUCOLIPIDOSIS IV; ML4


Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A


Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Medium match INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME


Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

Medium match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Medium match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Medium match KNIEST DYSPLASIA


Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Top 5 symptoms//phenotypes associated to Abnormal facial shape and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and High myopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Pes planus Generalized hypotonia Short stature Absent speech Hypertelorism Muscular hypotonia High palate Low-set ears Scoliosis Prominent forehead Cataract Proptosis Strabismus Cryptorchidism Retrognathia Intrauterine growth retardation Ptosis Gait disturbance Cutis laxa Malar flattening Arachnodactyly Tall stature Growth delay Prominent nasal bridge Failure to thrive Delayed speech and language development Cognitive impairment

Rare Symptoms - Less than 30% cases


Cerebellar atrophy Severe intrauterine growth retardation Nystagmus Microcephaly Flat face Narrow palm Retinal detachment Dysarthria Hyperextensibility of the finger joints Aortic aneurysm Abnormality of the pinna High pitched voice Ectopia lentis Kyphosis Osteoporosis Synophrys Smooth philtrum Bulbous nose High, narrow palate Bruising susceptibility Anemia Redundant skin Hearing impairment Midface retrusion Feeding difficulties Motor delay Abnormality of the skeletal system Anteverted nares Short nose Umbilical hernia Long philtrum Palpebral edema Hernia Vitreoretinopathy Inguinal hernia Narrow mouth Postnatal growth retardation Hip dislocation Carious teeth Joint hypermobility Thick lower lip vermilion Coarse facial features Skeletal dysplasia Cleft palate Lipodystrophy Flexion contracture Mandibular prognathia Overgrowth Pectus excavatum Ataxia Sparse eyebrow Hyperlordosis Disproportionate tall stature Long fingers Joint laxity Difficulty walking Slender finger Slender build Macrotia Kyphoscoliosis Hydrocephalus Severe short stature Wide intermamillary distance Frontal bossing Dilatation Cerebellar hypoplasia Rhegmatogenous retinal detachment Ventriculomegaly Intellectual disability, profound Postural instability Narrow face Generalized myoclonic seizures Bifid uvula Webbed neck Persistence of primary teeth Tetany Hyperpigmentation of the skin Broad-based gait Bilateral microphthalmos Delayed closure of the anterior fontanelle Dental crowding Hypocalcemic tetany Hypocalcemic seizures Abnormality of the medullary cavity of the long bones Congenital hypoparathyroidism Recurrent fractures Camptodactyly Talipes equinovarus Hyperphosphatemia Abnormal circulating follicle-stimulating hormone level Nasal speech Myoclonus Hypoparathyroidism Transient hypophosphatemia Retinal calcification Calvarial osteosclerosis Brachycephaly Stenosis of the medullary cavity of the long bones Intellectual disability, moderate Pectus carinatum Unsteady gait Papilledema Thin long bone diaphyses Cortical thickening of long bone diaphyses Postnatal macrocephaly Proportionate short stature Basal ganglia calcification High hypermetropia Short philtrum Decreased skull ossification Facial asymmetry Abnormality of movement Thickened cortex of long bones Spontaneous abortion Irregular dentition Decreased muscle mass Abnormality of the metaphysis Flared metaphysis Spondyloepiphyseal dysplasia Neonatal respiratory distress Coxa vara Joint dislocation Rhizomelia Abnormality of epiphysis morphology Recurrent otitis media Chorioretinal atrophy Osteoarthritis Round face Micromelia Platyspondyly Retinopathy Joint stiffness Conductive hearing impairment Short thorax Arthropathy Depressivity Enlarged joints Flattened, squared-off epiphyses of tubular bones Splayed epiphyses Lumbar kyphoscoliosis Dumbbell-shaped long bone Lens luxation Enlarged thorax Coronal cleft vertebrae Hypoplastic ilia Hip contracture Disproportionate short-trunk short stature Hypoplastic pelvis Tracheal stenosis Delayed epiphyseal ossification Bell-shaped thorax Glossoptosis Tracheomalacia Glaucoma Respiratory distress Epileptic spasms Sparse hair Sparse scalp hair Narrow forehead Single transverse palmar crease Everted lower lip vermilion Thick vermilion border Hirsutism Ichthyosis Hypogonadism Bronchiectasis Alopecia Brachydactyly Asymmetry of the ears Long palm Focal motor seizures Long hallux Small earlobe Decreased body weight Gingival overgrowth Short neck Eclabion Depressed nasal bridge Pain Micrognathia Infra-orbital fold Upper eyelid edema Abnormal lip morphology Urethral stenosis Generalized osteoporosis Sparse and thin eyebrow Abnormality of the vasculature Abnormality of the sternum Prolonged bleeding time Premature ovarian insufficiency Increased susceptibility to fractures Hyperextensible skin Hypergonadotropic hypogonadism Delayed cranial suture closure Prominent supraorbital ridges Hypocalcemia Hyperreflexia Increased body weight Relative macrocephaly Reduced subcutaneous adipose tissue Aortic root aneurysm Scaphocephaly Narrow nose Progeroid facial appearance Entropion Pes valgus Dural ectasia Prominent scalp veins Spasticity Visual impairment Optic atrophy Mitral valve prolapse Hypoplasia of the corpus callosum Dystonia Babinski sign Reduced visual acuity Hepatosplenomegaly Photophobia Abnormality of the nervous system Developmental regression Corneal opacity Abnormality of the cerebral white matter Abnormality of eye movement Retinal degeneration Retinal dystrophy Esotropia Oligohydramnios Premature birth Progressive neurologic deterioration Long face Sensorineural hearing impairment Genu valgum Astigmatism Epiphyseal dysplasia Severe sensorineural hearing impairment Flat capital femoral epiphysis Irregular capital femoral epiphysis Degenerative vitreoretinopathy Posteriorly rotated ears Upslanted palpebral fissure Cerebral cortical atrophy Gait ataxia High forehead Abnormal cerebellum morphology Arthrogryposis multiplex congenita Triangular face Lumbar hyperlordosis Large hands Megalencephaly Long foot Communicating hydrocephalus Metopic synostosis Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Hypertension Gastroesophageal reflux Craniosynostosis Spastic tetraplegia Amblyopia Increased bone mineral density Volvulus Aggressive behavior Wide mouth Coloboma Abnormal cardiac septum morphology Thick eyebrow Downturned corners of mouth Highly arched eyebrow Broad nasal tip Intestinal malrotation Broad thumb Long eyelashes Low anterior hairline Single umbilical artery Speech apraxia Constipation Cavum septum pellucidum Diastema Unilateral cryptorchidism Edema Microphthalmia Delayed skeletal maturation Abnormality of the liver Small for gestational age Hypermetropia Congenital cataract Infertility Neutropenia Decreased testicular size Small nail Thin upper lip vermilion Abnormal isoelectric focusing of serum transferrin Aspiration Progressive psychomotor deterioration Opacification of the corneal stroma Iron deficiency anemia Severe vision loss Abnormality of abdomen morphology Increased serum ferritin Developmental stagnation Motor deterioration Decreased light- and dark-adapted electroretinogram amplitude Titubation Esodeviation Cerebral dysmyelination Dysplastic corpus callosum Hoarse cry Oligosacchariduria Oxycephaly Abnormality of mucopolysaccharide metabolism Truncal titubation Abnormality of ganglioside metabolism Feeding difficulties in infancy Confusion Polymicrogyria Dandy-Walker malformation Pachygyria Large fontanelles Wide anterior fontanel Congenital hip dislocation Coarse hair Growth abnormality Brittle hair Abnormal cartilage collagen



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