Microphthalmia, and Hip dysplasia

Diseases related with Microphthalmia and Hip dysplasia

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

Top matches:

X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-h√únermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Other less relevant matches:

NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

SCHWARTZ-JAMPEL SYNDROME Is also known as myotonic chondrodystrophy|schwartz-jampel-aberfeld syndrome|burton skeletal dysplasia|sjs|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|dysostosis enchondralis metaepiphysaria, catel-hempel type|burton syndrome|aberfeld syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Top 5 symptoms//phenotypes associated to Microphthalmia and Hip dysplasia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Microphthalmia and Hip dysplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Kyphosis

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the skeletal system Seizures Nystagmus Talipes equinovarus Upslanted palpebral fissure Abnormal facial shape Genu valgum Delayed speech and language development Myopia Generalized hypotonia Abnormality of the pinna Cataract Strabismus Osteoporosis Anteverted nares High palate Frontal bossing Deeply set eye Hearing impairment Growth delay High forehead Wide mouth Gait ataxia Full cheeks Dental malocclusion Intrauterine growth retardation Narrow mouth Hypertelorism Neoplasm Hypoplasia of the corpus callosum Intellectual disability, severe Myopathy Prominent nasal bridge Intellectual disability, mild Pectus excavatum Protruding ear Osteopenia Cryptorchidism Short palm Microcephaly Optic nerve hypoplasia Failure to thrive Ptosis Flexion contracture Epicanthus Macrocephaly Optic atrophy Downslanted palpebral fissures Short nose Skeletal dysplasia Feeding difficulties Esotropia Autism Ventriculomegaly Visual impairment Clinodactyly

Rare Symptoms - Less than 30% cases

Umbilical hernia Congenital cataract Long face Low anterior hairline Thickened skin Downturned corners of mouth Distal amyotrophy Long philtrum Platyspondyly Attention deficit hyperactivity disorder Proximal placement of thumb Blepharophimosis Pectus carinatum Broad forehead Thick vermilion border Single transverse palmar crease Conductive hearing impairment Bowing of the long bones Wormian bones Apnea Spasticity Delayed puberty Delayed skeletal maturation Gynecomastia Low-set ears Hypermetropia Mandibular prognathia Respiratory failure Prominent forehead Inguinal hernia Congestive heart failure Ventricular septal defect Depressed nasal bridge Motor delay Tapered finger Skeletal muscle hypertrophy Coarse facial features Joint stiffness Short foot Hypopigmentation of the skin Striae distensae Truncal obesity Metatarsus adductus Osteolysis Short philtrum Smooth philtrum Absent speech Hyporeflexia Hip contracture Brachycephaly Ataxia Peripheral neuropathy Abnormality of the dentition Malar flattening Abnormality of the nervous system Abnormality of epiphysis morphology Anemia Midface retrusion Skeletal muscle atrophy Sparse hair Kyphoscoliosis Polyhydramnios Clinodactyly of the 5th finger Hyperkeratosis Glaucoma Edema Intellectual disability, moderate Gait disturbance Short neck Hypogonadism Flat face Pes cavus Chromosome breakage Microcornea Diabetes mellitus Concave nasal ridge Rhizomelia Hydrocephalus Behavioral abnormality Hypertonia Weak voice Sprengel anomaly Wrist flexion contracture Distichiasis Malignant hyperthermia Hip dislocation Abnormal eyebrow morphology Aplasia/Hypoplasia affecting the eye Hypoplasia of the calcaneus Carcinoma Trismus Blepharospasm Abnormality of the pharynx Testicular torsion Flexion contracture of toe Pain Abnormality of the calcaneus Obesity Dilatation Syndactyly Metaphyseal cupping of proximal phalanges Vomiting Fever Hypertension Cognitive impairment Muscular hypotonia Abnormally ossified vertebrae Abnormally straight spine Long eyelashes in irregular rows Elevated aldolase level Odontogenic neoplasm Shoulder flexion contracture Pursed lips Prenatal movement abnormality Metatarsus valgus Protrusio acetabuli Long eyelashes Myotonia Bone marrow hypocellularity Micromelia Increased bone mineral density Nephrolithiasis Decreased body weight Abnormality of the metaphysis Pulmonary arterial hypertension Abnormality of the ribs Decreased testicular size Everted lower lip vermilion Arthrogryposis multiplex congenita EMG abnormality Neurological speech impairment Irritability Hyperlordosis Feeding difficulties in infancy Duodenal stenosis Low-set, posteriorly rotated ears Anxiety Myalgia Pes planus Macrodontia Generalized hirsutism Abnormality of the ureter Overfolded helix Narrow palate Abnormality of immune system physiology Breast carcinoma Increased number of teeth Spinal rigidity High pitched voice Mask-like facies Hyperactivity Elbow dislocation Coxa valga Ectopia lentis Cachexia Ovarian neoplasm Abnormality of the urinary system Dysphonia Laryngomalacia Coxa vara Thick upper lip vermilion Stomach cancer Recurrent respiratory infections 11 pairs of ribs Distal shortening of limbs Bicuspid aortic valve Precocious puberty Failure to thrive in infancy Nasal speech Poor suck Infantile muscular hypotonia Generalized hypopigmentation Scrotal hypoplasia Cor pulmonale Sleep apnea Narrow palpebral fissure Hypothermia Spontaneous abortion Hypogonadotrophic hypogonadism Abdominal obesity Poor fine motor coordination Increased body weight Aortic valve stenosis Bradycardia Insulin resistance Clumsiness Primary amenorrhea Hyperinsulinemia Radial deviation of finger Psychosis Pulmonary embolism Acrocyanosis Oligomenorrhea Hypoplasia of the fovea Overweight Central hypotonia Ocular albinism Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Hypopigmentation of hair Impaired pain sensation Emotional lability Myeloid leukemia Narrow nasal bridge Polyphagia External genital hypoplasia Decreased muscle mass Adrenal insufficiency Albinism Glucose intolerance Inflammation of the large intestine Large hands Cutaneous photosensitivity Type II diabetes mellitus Metaphyseal cupping of metacarpals Depressed nasal ridge Leukemia Psychotic episodes Narrow palm Hypopnea Stroke Almond-shaped palpebral fissure Poor gross motor coordination Acromicria Cerebellar hypoplasia Respiratory tract infection Thin ribs Pruritus Neonatal hypotonia Hypoplastic iliac wing Hypoglycemia Decreased skull ossification Photophobia Thin upper lip vermilion Metaphyseal chondrodysplasia Severe platyspondyly Weight loss Micropenis Dolichocephaly Hypoplastic labia minora Decreased fetal movement Sleep disturbance Oligohydramnios Narrow forehead Abnormality of the cardiovascular system Amenorrhea Specific learning disability Febrile seizures Growth hormone deficiency Gastrointestinal hemorrhage Sepsis Anteverted ears Clitoral hypoplasia Carious teeth Small hand Polymicrogyria Arachnodactyly Frontal upsweep of hair Erysipelas Disseminated intravascular coagulation Triangular mouth Temperature instability Central adrenal insufficiency Infertility Elevated serum creatine phosphokinase Anterior concavity of thoracic vertebrae Arrhythmia Bradykinesia Plagiocephaly Spastic paraparesis Knee flexion contracture Paraparesis Hypergonadotropic hypogonadism Clonus Abnormal form of the vertebral bodies Sparse scalp hair Thick lower lip vermilion Cerebral calcification Schizophrenia Otitis media Nevus Hypoplasia of the maxilla Neurodegeneration Short distal phalanx of finger Narrow chest Synophrys Abnormal pyramidal sign Developmental regression Abnormal palate morphology Self-injurious behavior Macrotia Thoracic kyphosis Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Poor coordination Melanocytic nevus Irregular vertebral endplates Insulin-resistant diabetes mellitus Restlessness Congenital hypothyroidism Sparse body hair Basal ganglia calcification Ankle clonus Mixed hearing impairment Anonychia Bilateral cryptorchidism Aggressive behavior Hypothyroidism Posterior polar cataract Limb undergrowth Scaling skin Coarse hair Abnormality of pelvic girdle bone morphology Sparse eyelashes Abnormality of the fingernails Joint dislocation Hemivertebrae Sparse and thin eyebrow Abnormal vertebral morphology Dandy-Walker malformation Erythroderma Postaxial polydactyly Ichthyosis Talipes Erythema Postnatal growth retardation Hydronephrosis Polydactyly Alopecia Depressivity Sensorineural hearing impairment Abnormality of the thorax Bilateral talipes equinovarus Agenesis of corpus callosum Vertebral wedging Babinski sign Areflexia Stippled calcification in carpal bones Tarsal stippling Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Punctate vertebral calcifications Tracheal calcification Hyperkeratosis with erythema Patchy alopecia Aplasia/Hypoplasia of the skin Hemiatrophy Scarring alopecia of scalp Butterfly vertebrae Abnormality of hair texture Dry hair Tracheal stenosis Patellar dislocation Foot polydactyly Epiphyseal stippling Congenital ichthyosiform erythroderma Abnormal glucose tolerance Absent axillary hair Respiratory insufficiency Poor eye contact Abnormality of the foot Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Cerebellar atrophy Cardiomyopathy Happy demeanor Bruxism Mild microcephaly Facial hypotonia Overlapping toe Inability to walk Drooling Stereotypy Cerebellar vermis hypoplasia Delayed myelination Unsteady gait Difficulty walking Dystonia Cortical irregularity Serpentine fibula Prominent coccyx Peripheral axonal neuropathy Increased serum lactate Multiple skeletal anomalies Pointed chin Cleft palate Muscle weakness Periventricular gray matter heterotopia Single median maxillary incisor Colpocephaly Increased mean corpuscular volume Abnormal hair pattern Biparietal narrowing Chronic otitis media Preauricular skin tag Aciduria Mitral regurgitation Triangular face Highly arched eyebrow Astigmatism Dilated cardiomyopathy Autistic behavior Thrombocytopenia Dysphagia Abnormality of mitochondrial metabolism Absence seizures Broad clavicles Hyperplasia of the maxilla Basilar impression Abnormal heart morphology Mitral valve prolapse Broad nasal tip Delayed eruption of teeth Hirsutism Thin vermilion border Corneal opacity Camptodactyly of finger Camptodactyly Proptosis Hernia Short phalanx of finger Abnormality of cardiovascular system morphology Wide nasal bridge Brachydactyly Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Interphalangeal joint contracture of finger Gingival overgrowth Broad alveolar ridges Megalocornea Thoracolumbar kyphosis Vacuolated lymphocytes Anterior segment developmental abnormality Buphthalmos Beaking of vertebral bodies Abnormally large globe Genu recurvatum Double outlet right ventricle Premature loss of teeth Aseptic necrosis Wide anterior fontanel Congenital glaucoma Delayed cranial suture closure Flared metaphysis Tricuspid regurgitation Flat occiput Acne Cholelithiasis Short long bone Abnormality of the metacarpal bones Short chin Ovarian carcinoma


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