Microcephaly, and Kyphosis

Diseases related with Microcephaly and Kyphosis

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

Top matches:

Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997).For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 8; SCKL8

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.

X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME Is also known as maine microphthalmos|colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation|x-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME

Other less relevant matches:

NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES; NEDSBAS Is also known as elhattab-alkuraya syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES; NEDSBAS

Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.

REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as regressive spondylometaphyseal dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA

Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.

CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY Is also known as cmd without intellectual disability|cmd-no mr|congenital muscular dystrophy-dystroglycanopathy without intellectual disability

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Motor delay
  • Ventriculomegaly


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53 Is also known as spg53

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53

Medium match PEHO-LIKE SYNDROME

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-SHORT STATURE-BEHAVIORAL ABNORMALITIES-FACIAL DYSMORPHISM SYNDROME

Top 5 symptoms//phenotypes associated to Microcephaly and Kyphosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Kyphoscoliosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Kyphosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Ventriculomegaly Absent speech Spasticity Motor delay

Rare Symptoms - Less than 30% cases

Nystagmus Sloping forehead Anteverted ears Hypoplasia of the corpus callosum Brachydactyly Spastic paraplegia Intellectual disability, profound Cerebellar atrophy Difficulty walking Neonatal hypotonia Pectus carinatum Hypertonia Pachygyria Delayed speech and language development Hearing impairment Paraplegia Flexion contracture Toe syndactyly Feeding difficulties Abnormality of the dentition Hyperreflexia Epicanthus Upper limb hypertonia Abnormality of the auditory canal Hyperreflexia in upper limbs Impaired proprioception Limb dystonia Cortical dysplasia Impaired vibratory sensation Clonus Lower limb spasticity Hypertrichosis Joint hyperflexibility Behavioral abnormality Edema Recurrent infections Hyperactivity Dystonia Macrotia Deeply set eye Gait disturbance Aggressive behavior Synophrys Cognitive impairment Prominent nose Failure to thrive Stereotypy Reduced muscle fiber alpha dystroglycan Optic atrophy Abnormal facial shape Cleft palate Joint laxity Visual impairment Syndactyly Ataxia Infantile encephalopathy Central hypotonia Pectus excavatum Severe muscular hypotonia Progressive microcephaly Open mouth Status epilepticus Hypsarrhythmia Narrow forehead Clinodactyly Brain atrophy Abnormality of movement Short nose Limb-girdle muscle atrophy Chorea Blue sclerae Cerebral visual impairment Full cheeks Rotary nystagmus Tapered finger Polymicrogyria Retrognathia Ankyloglossia Myoclonus Strabismus Cerebellar hypoplasia Encephalopathy Fatty replacement of skeletal muscle Muscle cramps Cerebellar cyst Convex nasal ridge Epidermal nevus Comedo Growth delay Micrognathia Intrauterine growth retardation Severe short stature Ectopic kidney Pustule Spinal cord compression Ptosis Microphthalmia Abnormality of the pinna Coloboma Microcornea Nevus flammeus Hamartoma Pendular nystagmus Abnormality of the foot Scoliosis Cataract Alopecia Scarring Finger syndactyly Papule Ichthyosis Acne Nevus Epidermal acanthosis Abnormal vertebral morphology Abnormality of the hair Spina bifida Spina bifida occulta Preaxial polydactyly Esotropia Diastema Achilles tendon contracture Heterotopia Spondylometaphyseal dysplasia Thoracolumbar kyphosis Hyposegmentation of neutrophil nuclei Myalgia Abnormality of the cerebral white matter Generalized muscle weakness Frequent falls Limited elbow extension EMG: myopathic abnormalities Congenital muscular dystrophy Toe walking Mildly elevated creatine phosphokinase Facial diplegia Proximal amyotrophy Ovoid vertebral bodies Mild short stature Muscular hypotonia of the trunk Ventricular septal defect Inability to walk Tetraplegia Spastic tetraplegia Cerebral hypoplasia Macrocephaly Abnormality of the skeletal system Prominent forehead Knee flexion contracture Polydactyly Skeletal dysplasia Camptodactyly Hyperlordosis Platyspondyly Postaxial polydactyly Rhizomelia Lymphopenia


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