Macrocephaly, and Kyphoscoliosis

Diseases related with Macrocephaly and Kyphoscoliosis

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

Top matches:

Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).

OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 Is also known as oi, type ix

Related symptoms:

  • Scoliosis
  • Growth delay
  • Macrocephaly
  • Kyphosis
  • Pectus excavatum


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE IX; OI9

Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about RAHMAN SYNDROME; RMNS

Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 3 Is also known as severe osteogenesis imperfecta|osteogenesis imperfecta, progressively deforming, with normal sclerae|progressive deforming osteogenesis imperfecta|oi type 3|oi, type iii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 3

Other less relevant matches:

Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Medium match ANAUXETIC DYSPLASIA

Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017).For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (OMIM ).

ANAUXETIC DYSPLASIA Is also known as spondyloepimetaphyseal dysplasia, menger type|spondyloepimetaphyseal dysplasia, anauxetic type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANAUXETIC DYSPLASIA

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

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

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 Macrocephaly and Kyphoscoliosis

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Hearing impairment Hyperlordosis Seizures Relative macrocephaly Ataxia Joint laxity Severe short stature Frontal bossing Short neck Generalized hypotonia High palate Overgrowth Myopia Cerebellar hypoplasia Abnormality of the dentition Malar flattening Thick vermilion border

Rare Symptoms - Less than 30% cases

Brachydactyly Depressed nasal bridge Cleft palate Skeletal dysplasia Anteverted nares Midface retrusion Long philtrum Flexion contracture Coxa vara Wide nasal base Dental crowding Cryptorchidism Motor delay Widely spaced teeth Hypertrichosis Delayed eruption of teeth Lumbar hyperlordosis Cerebral cortical atrophy Upslanted palpebral fissure Long face Proptosis Prominent forehead Pes planus Absent speech Wide mouth Cerebellar atrophy Delayed speech and language development Slender build Abnormal cerebellum morphology High myopia Umbilical hernia Short thorax Inguinal hernia Growth delay Hypoplastic ilia Disproportionate short-trunk short stature Macroglossia Camptodactyly Increased susceptibility to fractures Micrognathia Dentinogenesis imperfecta Multiple prenatal fractures Wide anterior fontanel Bowing of limbs due to multiple fractures Recurrent fractures Blue sclerae Cognitive impairment Strabismus Rhizomelia Talipes equinovarus Wormian bones Epicanthus Downslanted palpebral fissures Macrotia Neonatal hypotonia Talipes Coarse facial features Triangular face Rhegmatogenous retinal detachment Recurrent respiratory infections Polydactyly Respiratory failure Camptodactyly of finger Low-set, posteriorly rotated ears Lens luxation Respiratory tract infection Broad forehead Finger syndactyly Confusion Congenital diaphragmatic hernia Enlarged thorax Abnormality of the ribs Coronal cleft vertebrae Hypospadias Recurrent otitis media Hernia Hallux valgus Poor speech High, narrow palate Prominent nose Intention tremor Open mouth Clonus Poor suck Flattened, squared-off epiphyses of tubular bones Splayed epiphyses Nasal speech Patent foramen ovale Lumbar kyphoscoliosis Thickened calvaria Abnormality of cardiovascular system morphology Ankylosis Mild global developmental delay Right ventricular hypertrophy Left ventricular noncompaction Speech apraxia Perseveration Increased head circumference Deviated nasal septum Microcephaly Dumbbell-shaped long bone Intrauterine growth retardation Atrial septal defect Congestive heart failure Respiratory insufficiency Hypoplastic pelvis Enlarged joints Short nose Ptosis Hip contracture Arthropathy Chorioretinal atrophy Flared metaphysis Gait disturbance Spondyloepiphyseal dysplasia Neonatal respiratory distress Ectopia lentis Joint dislocation Abnormality of the skeletal system Respiratory distress Depressivity Short philtrum Abnormality of epiphysis morphology Glaucoma Retrognathia Conductive hearing impairment Abnormality of the metaphysis Joint stiffness Retinopathy Hip dislocation Platyspondyly Micromelia Retinal detachment Round face Osteoarthritis Cataract Pain Abnormal form of the vertebral bodies Vertebral segmentation defect Abnormal vertebral morphology Tracheal stenosis Delayed epiphyseal ossification Spina bifida Hemivertebrae Vitreoretinopathy Scapular winging Spina bifida occulta Abnormality of the urinary system Preaxial polydactyly Bell-shaped thorax Prominent occiput Abnormality of immune system physiology Rib segmentation abnormalities Abnormality of the ureter Double outlet right ventricle Meningocele Glossoptosis Rib fusion Anomalous pulmonary venous return Abnormality of female internal genitalia Urogenital fistula Abnormality of the intervertebral disk Cervical C2/C3 vertebral fusion Block vertebrae Abnormality of the odontoid process Tracheomalacia Delayed puberty Long foot Abnormal cardiac septum morphology Congenital, generalized hypertrichosis Hirsutism Depressed nasal ridge Gingival overgrowth Low anterior hairline Generalized hirsutism Deep philtrum Peritonitis Gingival fibromatosis Thick nasal alae Generalized hypertrichosis Thoracic kyphoscoliosis Delayed skeletal maturation Bulbous nose Sparse hair Hypodontia Nail dysplasia Limb undergrowth Small nail Elbow flexion contracture Coxa valga Cubitus valgus Cone-shaped epiphysis Metaphyseal irregularity Short femoral neck Metaphyseal dysplasia Thick eyebrow Synophrys Ovoid vertebral bodies Accelerated skeletal maturation Pectus excavatum Osteoporosis Pectus carinatum Joint hypermobility Disproportionate short-limb short stature Femoral bowing Hypertonia Telecanthus Astigmatism Full cheeks Nevus Amblyopia Curved fingers EEG abnormality Abnormality of the nervous system Pulmonary arterial hypertension Abnormality of the thorax Tibial bowing Slender long bone Platybasia Biconcave vertebral bodies Neonatal short-limb short stature Protrusio acetabuli Basilar impression Decreased calvarial ossification Severe generalized osteoporosis Thoracolumbar scoliosis Broad ribs Muscular hypotonia of the trunk Inability to walk Severe expressive language delay Nystagmus Sensorineural hearing impairment Spasticity Cerebral atrophy Clinodactyly Hyporeflexia Babinski sign Hepatosplenomegaly Autistic behavior Abnormality of the cerebral white matter Neuronal loss in central nervous system Long neck Apraxia Short palpebral fissure Broad face Broad philtrum Tremor Ventricular septal defect Hypoplasia of the corpus callosum Patent ductus arteriosus Narrow mouth Autism Gastroesophageal reflux Aggressive behavior Thick corpus callosum Expressive language delay Spondyloepimetaphyseal dysplasia Posteriorly rotated ears Shield chest Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Thoracolumbar kyphoscoliosis Increased vertebral height Hypoplasia of the femoral head Hypoplastic iliac body Cervical spine instability Hypertelorism Low-set ears Ventriculomegaly Hydrocephalus Gait ataxia Metopic synostosis Mandibular prognathia High forehead Difficulty walking Prominent nasal bridge Arachnodactyly Tall stature Sparse eyebrow Large hands Disproportionate tall stature Long fingers Megalencephaly Communicating hydrocephalus Abnormal cartilage collagen


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