Macrocephaly, and Hip dysplasia

Diseases related with Macrocephaly and Hip dysplasia

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

Top matches:

TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7|hecht-beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|hecht syndrome|dutch-kentucky syndrome

Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • Feeding difficulties


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Other less relevant matches:

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

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

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Global developmental delay Inguinal hernia Flexion contracture Ptosis Talipes equinovarus Arthrogryposis multiplex congenita Hydrocephalus Midface retrusion Frontal bossing Abnormal facial shape Hypertelorism Hip dislocation Short nose Clinodactyly of the 5th finger Talipes Feeding difficulties Strabismus Failure to thrive Kyphoscoliosis Downslanted palpebral fissures Generalized hypotonia Seizures Abnormality of the skeletal system Respiratory distress Low-set ears Depressed nasal bridge Specific learning disability Micrognathia Glaucoma Kyphosis

Rare Symptoms - Less than 30% cases

Dyspnea Respiratory failure Dilatation Joint hyperflexibility Arachnodactyly Long face Upslanted palpebral fissure Hernia Anteverted nares Malar flattening Prominent forehead Fatigue Coxa valga Myopia Retinopathy Craniosynostosis Hydronephrosis Polydactyly Edema Alopecia Coxa vara Abnormal form of the vertebral bodies Joint dislocation Abnormality of epiphysis morphology Limb undergrowth Joint stiffness Skeletal dysplasia Respiratory insufficiency Polyhydramnios Apnea Dolichocephaly Elbow dislocation Waddling gait Hemivertebrae Blue sclerae Hyperextensible skin Accelerated skeletal maturation Micromelia Sleep apnea Camptodactyly of finger Umbilical hernia Severe short stature High palate Short neck Epicanthus Median cleft lip and palate Femoral hernia Avascular necrosis of the capital femoral epiphysis Pyloric stenosis Hypertension Overfolded helix Attention deficit hyperactivity disorder Gastroesophageal reflux Narrow mouth High forehead Symphalangism affecting the phalanges of the hand Constrictive median neuropathy Short finger Hepatitis Growth delay Cataract Sensorineural hearing impairment Intellectual disability, moderate Facial asymmetry Abnormality of the foot Anemia Hypoplasia of the corpus callosum Hyperactivity Hypospadias Mandibular prognathia Dysphagia Hypertonia Ventriculomegaly Severe muscular hypotonia Decreased fetal movement Nephrolithiasis Nephrocalcinosis Butterfly vertebrae Abnormality of hair texture Progressive muscle weakness Decreased liver function Narrow face EMG abnormality Dry hair Erythema External ophthalmoplegia Neonatal respiratory distress Aplasia/Hypoplasia of the skin Centrally nucleated skeletal muscle fibers Weak cry Hypokinesia Long fingers Congenital ichthyosiform erythroderma Mask-like facies Epiphyseal stippling Concave nasal ridge Myotonia Ophthalmoparesis Foot polydactyly Cholelithiasis Atrioventricular block Hemangioma Patellar dislocation Tracheal stenosis Scarring alopecia of scalp Abnormal bleeding Hemiatrophy Visceral angiomatosis Hypoplastic cervical vertebrae Hitchhiker thumb Cervical kyphosis Ulnar deviation of the wrist Spinal deformities Neonatal short-limb short stature Elevated 8(9)-cholestenol Flattened epiphysis Ulnar deviation of the hand Elevated 8-dehydrocholesterol Lethal skeletal dysplasia Irregular epiphyses Large earlobe Thoracic dysplasia Tarsal stippling Spinal cord compression Abnormality of the clavicle Overweight Hip contracture Glabellar hemangioma Punctate vertebral calcifications Patchy alopecia Hyperkeratosis with erythema Dental malocclusion Generalized muscle weakness Inability to walk Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Vertebral wedging Paralysis Facial palsy Laryngotracheal stenosis Tracheal calcification Areflexia Myopathy Gait disturbance Skeletal muscle atrophy Muscle weakness Hypertrophic auricular cartilage Cystic lesions of the pinnae Costal cartilage calcification Neck muscle weakness Cavernous hemangioma Hypoventilation Sparse and thin eyebrow Microcornea Esotropia Dandy-Walker malformation Broad ribs Rhizomelia Disproportionate short-trunk short stature Ovoid vertebral bodies Abnormal vertebral morphology Abnormality of the fingernails Flat face Hypoplastic iliac wing Dysostosis multiplex Obstructive sleep apnea Thoracic kyphosis Hypoplasia of the odontoid process Aseptic necrosis Spinal canal stenosis Abnormal heart valve morphology Postaxial polydactyly Ichthyosis Metaphyseal widening Anterior wedging of L2 Postnatal growth retardation Abnormality of the nervous system Hyperkeratosis Depressivity Microphthalmia Abnormality of the dentition Optic atrophy Nystagmus Anterior wedging of L1 Flared iliac wings Hypoplastic acetabulae Dermatan sulfate excretion in urine Cervical cord compression Cervical instability Cervical myelopathy Prominent sternum Retinal fold Myelopathy Sparse hair Metaphyseal irregularity Epiphyseal dysplasia Facial diplegia Respiratory failure requiring assisted ventilation Splenomegaly Intellectual disability, severe Abnormality of the thorax Cardiomyopathy Erythroderma Hepatomegaly Bilateral talipes equinovarus Hepatic hemangioma Birth length greater than 97th percentile Coarse hair Slender toe Premature adrenarche Nocturnal hypoventilation Fractures of the long bones Abnormality of the pinna Diaphragmatic eventration Spherocytosis Head tremor Scaling skin Hypothyroidism Recurrent upper respiratory tract infections Tetraparesis Proximal placement of thumb Spastic tetraparesis Opacification of the corneal stroma Aortic valve stenosis Thickened skin Decreased body weight Split hand Progressive neurologic deterioration Lumbar hyperlordosis Coarse facial features Spastic tetraplegia Macroglossia Tetraplegia Hirsutism Genu valgum Sparse eyelashes Abnormality of pelvic girdle bone morphology Corneal opacity Hepatosplenomegaly Ulnar deviation of finger Sacral dimple Short long bone Neonatal asphyxia Broad forehead Thin upper lip vermilion Jaundice Agenesis of corpus callosum Motor delay Cognitive impairment Increased urinary sedoheptulose Abnormality of globe location Abnormal CNS myelination Polymicrogyria Postprandial hyperglycemia Hypochromic anemia Subcortical cerebral atrophy Abnormality of the renal tubule Hypochromic microcytic anemia Cholestatic liver disease Recurrent hypoglycemia Breech presentation Thin vermilion border Vesicoureteral reflux Severe postnatal growth retardation Absent septum pellucidum Intraventricular hemorrhage Ureterocele Metopic synostosis Broad face Arachnoid cyst Narrow nose Arnold-Chiari type I malformation Syringomyelia Cutis marmorata Urinary incontinence Obsessive-compulsive behavior Sparse eyebrow Abnormality of the urinary system Aplasia/Hypoplasia of the corpus callosum Short chin Renal hypoplasia Pigmentary retinopathy Overgrowth Diastasis recti Shallow orbits Partial absence of the septum pellucidum Abnormality of the musculature Atrial septal defect Spasticity Microcephaly Tall chin Calcaneovalgus deformity Cutaneous syndactyly of toes Trismus Distal arthrogryposis Mild short stature Intellectual disability, mild Metatarsus adductus Hammertoe Deep philtrum Cutaneous syndactyly Limitation of joint mobility Muscle cramps Camptodactyly Syndactyly Behavioral abnormality Autism Steatorrhea Short foot Hyperglycemia Portal hypertension Adducted thumb Arnold-Chiari malformation Chronic diarrhea Large fontanelles Cholestasis Hypotelorism Prominent nasal bridge Anxiety Recurrent infections Immunodeficiency Renal insufficiency Diarrhea Relative macrocephaly Schizophrenia Hallucinations Tetralogy of Fallot Autistic behavior Craniofacial asymmetry Congestive heart failure Disproportionate short-limb short stature Clitoral hypoplasia Onychogryposis of fingernail Naevus flammeus of the eyelid Euryblepharon Abnormality of the penis Ridged fingernail Curly eyelashes Hypoplastic labia minora Abnormality of the gingiva Epispadias Pain Fingernail dysplasia Bifid tongue Hypoplastic labia majora Anodontia Capillary hemangioma Increased number of teeth Long palpebral fissure Open bite Cleft palate Intrauterine growth retardation Gingival overgrowth Interphalangeal joint contracture of finger Abnormality of the metacarpal bones Abnormality of the outer ear Hoarse voice Increased bone mineral density Short phalanx of finger Bowing of the long bones Abnormality of the metaphysis Osteoarthritis Abnormality of the ribs Abnormality of cardiovascular system morphology Cerebral calcification Full cheeks Low-set, posteriorly rotated ears Arthralgia Recurrent respiratory infections Pneumonia Abnormal heart morphology Obesity Oligodontia Long eyelashes Macrotia Rocker bottom foot Aortic dissection Cardiorespiratory arrest Hiatus hernia Pulmonary artery stenosis Aortic root aneurysm Prematurely aged appearance Keratoconus Telangiectasia of the skin Aortic aneurysm Myocarditis Redundant skin Cardiac arrest Thin skin Myocardial infarction Short palpebral fissure Dilated cardiomyopathy Blepharophimosis Hypertrophic cardiomyopathy Esophagitis Abnormal myocardium morphology Hypoplasia of penis Retrognathia Hypodontia High, narrow palate Downturned corners of mouth Wide nose Short palm Finger syndactyly Short philtrum Pectus carinatum Proptosis Arterial stenosis Posteriorly rotated ears Pectus excavatum Long philtrum Wide nasal bridge Brachydactyly Abnormality of the zygomatic bone Abnormal carotid artery morphology Keratoglobus Long palm Stippled calcification in carpal bones


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