Motor delay, and Blepharophimosis

Diseases related with Motor delay and Blepharophimosis

In the following list you will find some of the most common rare diseases related to Motor delay and Blepharophimosis that can help you solving undiagnosed cases.

Top matches:

Hassed et al. (2012) described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Motor delay
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 3; AOS3

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Other less relevant matches:

DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

Top 5 symptoms//phenotypes associated to Motor delay and Blepharophimosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Motor delay and Blepharophimosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Wide nasal bridge Seizures Low-set ears Micrognathia Ptosis Cleft palate Short stature Hearing impairment Abnormal facial shape Strabismus Hypoplasia of the corpus callosum Narrow mouth Short palpebral fissure Talipes equinovarus Posteriorly rotated ears Feeding difficulties Long philtrum Growth delay Upslanted palpebral fissure Abnormality of the pinna High palate Microphthalmia Pectus excavatum Flat face Microtia Abnormal heart morphology Scrotal hypoplasia Short philtrum Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Hernia Brachycephaly Scoliosis Telecanthus Macrotia Talipes Tapered finger Cutis laxa Cavum septum pellucidum Bulbous nose Inguinal hernia Atrial septal defect Congestive heart failure Low-set, posteriorly rotated ears Cardiomyopathy Ventriculomegaly Intellectual disability, mild Flexion contracture Overfolded helix Short neck Microdontia Midface retrusion Hypospadias Round face Microcornea Wide intermamillary distance High forehead Downturned corners of mouth Deeply set eye Hypermetropia Edema Anteverted nares Intrauterine growth retardation Intellectual disability, severe Long toe Hyperactivity Thin upper lip vermilion Camptodactyly Long fingers Wide mouth Language impairment Joint hypermobility Narrow palpebral fissure Syndactyly Broad forehead Prominent occiput Restrictive deficit on pulmonary function testing Heart murmur Abnormality of cardiovascular system morphology Congenital hypothyroidism Umbilical hernia Bipolar affective disorder Schizophrenia Multiple skeletal anomalies Ankle contracture Malignant hyperthermia Abnormality of the foot Areflexia Hyporeflexia Kyphoscoliosis Neonatal asphyxia Conductive hearing impairment Proximal muscle weakness Abnormal palmar dermatoglyphics Facial palsy Arthrogryposis multiplex congenita Epicanthus inversus Hypoplasia of teeth Long face Patellar hypoplasia Generalized muscle weakness Narrow forehead Open mouth Tented upper lip vermilion Congenital contracture Gowers sign Myopathic facies Retinopathy Full cheeks Abnormality of the outer ear External ear malformation Abnormality of the musculature Cerebellar vermis atrophy Hamartoma Neuroblastoma Hypoplastic nipples Irregular hyperpigmentation Proteinuria Myopathy Lower limb asymmetry Joint laxity Periorbital fullness Broad eyebrow Hypothyroidism Median cleft palate Upper limb asymmetry Abnormality of the scrotum Increased number of skin folds Localized neuroblastoma Overlapping toe Tricuspid regurgitation Widely spaced teeth Delayed myelination Torticollis Macular degeneration Severe global developmental delay Abnormality of the dentition Nevus Abnormality of the skin Amblyopia Recurrent otitis media Dilated cardiomyopathy Optic nerve hypoplasia Postnatal growth retardation Febrile seizures Dandy-Walker malformation Hypertrichosis Abnormality of the face Hypoplasia of dental enamel Thickened skin Generalized hirsutism Kyphosis Ureterocele Respiratory insufficiency Obesity Vertebral fusion Delayed ability to walk Abnormal myelination Unilateral cryptorchidism Nystagmus Behavioral abnormality Short nose Clinodactyly Abnormality of the cerebral white matter Anxiety Aggressive behavior Attention deficit hyperactivity disorder Synophrys Thin vermilion border Thick eyebrow Thick vermilion border Bilateral ptosis Gastroesophageal reflux Stereotypy Sparse hair Short distal phalanx of finger Short metatarsal 2-3 toe syndactyly Aplasia cutis congenita Absent toe Pain Neonatal hypotonia Poor speech Agenesis of corpus callosum Astigmatism Broad nasal tip Fine hair Long palpebral fissure Self-mutilation Fair hair Tics Inappropriate laughter Broad-based gait Insulin resistance Abnormality of the skeletal system Right bundle branch block Gliosis Focal-onset seizure Convex nasal ridge Sloping forehead Pointed chin Focal impaired awareness seizure Mask-like facies Bundle branch block Triangular face Disproportionate tall stature Entropion Wide nasal base Narrow naris Muscle weakness Cognitive impairment Fever Skeletal muscle atrophy Sepsis Polymicrogyria Cafe-au-lait spot Carious teeth Delayed gross motor development Easy fatigability Polycystic ovaries Impulsivity Horizontal eyebrow Osteopenia Pes planus Short palm Protruding ear Broad neck Failure to thrive Cataract Ventricular septal defect Pneumonia Micropenis Retrognathia Hypertrophic cardiomyopathy Multiple bladder diverticula


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