Flexion contracture, and Holoprosencephaly

Diseases related with Flexion contracture and Holoprosencephaly

In the following list you will find some of the most common rare diseases related to Flexion contracture and Holoprosencephaly that can help you solving undiagnosed cases.

Top matches:

X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE Is also known as mental retardation and macrocephaly syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE

Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Other less relevant matches:

Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.

LETHAL INTRAUTERINE GROWTH RESTRICTION-CORTICAL MALFORMATION-CONGENITAL CONTRACTURES SYNDROME Is also known as morse-rawnsley-sargent syndrome

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Low-set ears
  • Intrauterine growth retardation
  • Short neck


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LETHAL INTRAUTERINE GROWTH RESTRICTION-CORTICAL MALFORMATION-CONGENITAL CONTRACTURES SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.

PALLISTER-HALL SYNDROME Is also known as hypothalamic hamartoblastoma syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about PALLISTER-HALL SYNDROME

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Holoprosencephaly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Flexion contracture and Holoprosencephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Intellectual disability, severe Microphthalmia Microcephaly Strabismus Agenesis of corpus callosum Anteverted nares Omphalocele Adducted thumb Coarse facial features Cleft lip Delayed speech and language development Short neck Dilatation Downslanted palpebral fissures Ventriculomegaly Spasticity Wide nasal bridge Nystagmus Epicanthus Generalized hypotonia Atrial septal defect Intrauterine growth retardation Ptosis Cleft palate High palate

Rare Symptoms - Less than 30% cases

Aplasia/Hypoplasia of the corpus callosum Skeletal dysplasia Hypermetropia Broad forehead Camptodactyly Hemivertebrae Multiple joint contractures Depressed nasal bridge Hernia Bifid uvula Anal atresia Microtia Myopia Abnormal facial shape Patent ductus arteriosus Dental malocclusion Apnea Narrow forehead Scoliosis Alobar holoprosencephaly Brachycephaly Cerebellar hypoplasia Pectus excavatum Myopathy Respiratory insufficiency Hip dislocation Talipes equinovarus Cataract Abnormality of cardiovascular system morphology Postaxial hand polydactyly Spina bifida Congenital diaphragmatic hernia Primary adrenal insufficiency Anencephaly Abnormal lung lobation Coarctation of aorta Partial agenesis of the corpus callosum Flat occiput Short stature Brachydactyly Ventricular septal defect Short nose Dolichocephaly Oligohydramnios Aplasia/Hypoplasia of the cerebellum Spastic paraplegia Joint stiffness Intellectual disability, mild Increased intracranial pressure Hemiplegia/hemiparesis Absent septum pellucidum Natal tooth Aqueductal stenosis Knee flexion contracture Hypertonia Flexion contracture of thumb Hyperreflexia Cognitive impairment Cryptorchidism Neoplasm Micropenis Retrognathia Long face Micrognathia Camptodactyly of finger Blepharophimosis Hypotelorism Panhypopituitarism Female infertility Low-set ears Microretrognathia Frontal bossing Ankle contracture Median cleft lip and palate Single median maxillary incisor Hydrometrocolpos Midline defect of the nose Broad toe Osteochondroma Parietal bossing Semilobar holoprosencephaly Thin upper lip vermilion Absent nasal septal cartilage Central adrenal insufficiency Hypoplasia of the corpus callosum Abnormal heart morphology Clinodactyly Headache Syndactyly Long philtrum Abnormality of the dentition Abnormality of the skeletal system Bilateral postaxial polydactyly Pain Failure to thrive Hearing impairment Flat nasal alae Fusion of the left and right thalami Hypoplasia of the premaxilla Bilateral microphthalmos Mesoaxial polydactyly Broad face 3-4 finger cutaneous syndactyly Macrotia Upslanted palpebral fissure Midface retrusion Smooth philtrum Oral cleft Iris coloboma Gelastic seizures Polydactyly affecting the 4th finger Highly arched eyebrow Polydactyly affecting the 3rd finger Auricular tag Aplasia/Hypoplasia of the vagina Supernumerary metacarpal bones Prominent nose Bilateral cleft lip and palate Midline facial capillary hemangioma Bifid epiglottis Paroxysmal bursts of laughter Aplasia/hypoplasia of the uterus Recurrent upper and lower respiratory tract infections Abnormal basal ganglia MRI signal intensity Median cleft lip Bilateral cleft lip Protruding ear Laryngeal cleft Hypothalamic hamartoma Abnormal prolactin level Radial head subluxation Depressed nasal tip Clinodactyly of the 5th finger Cerebral calcification Severe short stature Submucous cleft hard palate Ectopic anus Echolalia Misalignment of teeth Osteopetrosis Pierre-Robin sequence Ankylosis Tracheomalacia Fibular hypoplasia Anal stenosis Thickened calvaria Broad ribs Mixed hearing impairment Visual field defect Hypoplastic left heart Dysphasia Aphasia Delayed cranial suture closure Hyperostosis Nephroblastoma Overfolded helix Thoracic dysplasia Large forehead Increased susceptibility to fractures Laryngotracheomalacia Straight clavicles Metaphyseal striations Osteopathia striata Facial hyperostosis High iliac wings Unilateral facial palsy Laryngeal web Craniofacial osteosclerosis Large iliac wings Broad clavicles Facial paralysis Rough bone trabeculation Flexion contracture of toe Asymmetry of the thorax Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis Fibular aplasia Delayed closure of the anterior fontanelle White forelock Metaphyseal widening Pyloric stenosis Posteriorly rotated ears Craniosynostosis Broad nasal tip Delayed eruption of teeth High, narrow palate Thick vermilion border Flat face Thin vermilion border Cleft upper lip Arachnodactyly Ophthalmoplegia Paralysis Webbed neck Hyperlordosis Facial palsy Hydronephrosis Conductive hearing impairment High forehead Gastroesophageal reflux Polyhydramnios Hypothyroidism Prominent forehead Intestinal malrotation Abnormality of the skin Nasal speech Aortic valve stenosis Mutism Cutaneous syndactyly Spina bifida occulta Osteolysis Narrow palate Spontaneous abortion Multicystic kidney dysplasia Increased bone mineral density Joint contracture of the hand Abnormal vertebral morphology Wide intermamillary distance Dental crowding Large fontanelles Aganglionic megacolon Abnormality of the metaphysis Open mouth Thick lower lip vermilion Lumbar hyperlordosis Accessory oral frenulum Specific learning disability Bilateral renal agenesis Hypospadias Thyroid hypoplasia Narrow palpebral fissure Epicanthus inversus Congenital ptosis Increased circulating gonadotropin level Short finger Hypoplasia of the uterus Cupped ear Premature ovarian insufficiency Abnormality of the hair Premature atrial contractions Primary amenorrhea Amenorrhea Microcornea Infertility Synophrys Telecanthus Feeding difficulties Unilateral ptosis Abnormality of the breast Enlarged thorax Elevated serum creatine phosphokinase Dilated cardiomyopathy Muscular dystrophy Abnormality of the pinna Neonatal hypotonia Rigidity EEG abnormality Glaucoma Areflexia Abnormal lacrimal duct morphology Respiratory distress Gait disturbance Optic atrophy Skeletal muscle atrophy Motor delay Visual impairment Muscular hypotonia Muscle weakness Abnormality of the diencephalon Hydranencephaly Arthrogryposis multiplex congenita Long fingers Spastic paraparesis Paraparesis Paraplegia Abnormal pyramidal sign Carcinoma Absent nares Macroorchidism Limited elbow extension Clear cell renal cell carcinoma Delayed gross motor development Abnormality of the fingernails Pointed chin Intellectual disability, profound Tapered finger Intellectual disability, moderate Obesity Renal cell carcinoma Corticospinal tract hypoplasia Abnormality of the pleura Limitation of joint mobility Fetal akinesia sequence Aplasia/Hypoplasia of the lungs Renal hypoplasia/aplasia Abnormal dermatoglyphics Interphalangeal joint contracture of finger Decreased fetal movement Sloping forehead Deeply set eye Noncommunicating hydrocephalus Cerebral cortical atrophy Esodeviation Oxycephaly Visceromegaly Bilateral cryptorchidism Small hand Babinski sign Hyporeflexia Abnormality of the cerebral white matter Congenital cataract Secondary growth hormone deficiency Ambiguous genitalia Precocious puberty Atresia of the external auditory canal Scrotal hypoplasia Broad thumb Renal dysplasia Choanal atresia Depressed nasal ridge Decreased testicular size Unilateral renal agenesis Nail dysplasia Talipes Toe syndactyly Low-set, posteriorly rotated ears Umbilical hernia Inguinal hernia Neural tube defect Trigonocephaly Overlapping toe Calvarial skull defect Short 4th metacarpal Arrhinencephaly Facial grimacing Abnormal corpus callosum morphology Gonadotropin deficiency Adrenocorticotropic hormone deficiency Rib fusion Pituitary hypothyroidism Radial bowing Large for gestational age Microglossia Adrenal hypoplasia Scaphocephaly Distal arthrogryposis Oligodactyly Hypopituitarism Atrioventricular canal defect Ectopic kidney Abnormality of the diaphragm Abnormality of neuronal migration Pulmonic stenosis Preauricular skin tag Hypoplasia of the brainstem Congenital muscular dystrophy Plagiocephaly Lissencephaly EMG abnormality Congenital hip dislocation Bradycardia Pachygyria Skeletal muscle hypertrophy Encephalocele Cerebellar vermis hypoplasia Brain atrophy Generalized muscle weakness Abnormal cerebellum morphology Retinal detachment Polymicrogyria Mask-like facies Increased variability in muscle fiber diameter Hypoplasia of the pyramidal tract Cerebellar dysplasia Cephalocele Thoracic hemivertebrae Hypoglycosylation of alpha-dystroglycan Agyria Cerebellar cyst Exaggerated startle response Type II lissencephaly Buphthalmos Calf muscle hypertrophy Myocardial fibrosis Retinal dysplasia Atrophy/Degeneration affecting the brainstem Weak cry Transposition of the great arteries Spinal rigidity Cortical dysplasia Generalized amyotrophy Paranasal sinus hypoplasia


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