Microcephaly, and Short philtrum
Diseases related with Microcephaly and Short philtrum
In the following list you will find some of the most common rare diseases related to Microcephaly and Short philtrum that can help you solving undiagnosed cases.
Top matches:
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Hypertelorism
More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15
Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.
MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Microcephaly
- Scoliosis
SOURCES: ORPHANET OMIM MENDELIAN
More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13
Other less relevant matches:
- Intellectual disability
- Short stature
- Microcephaly
- Growth delay
- Abnormal facial shape
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27
Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47
Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Is also known as cerebral palsy, spastic quadriplegic, 3, formerly|cpsq3, formerly
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50
Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52
High match COFFIN-SIRIS SYNDROME 5; CSS5
Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about COFFIN-SIRIS SYNDROME 5; CSS5
Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD
Top 5 symptoms//phenotypes associated to Microcephaly and Short philtrum
| Symptoms // Phenotype | % cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Seizures | Common - Between 50% and 80% cases |
| Wide nasal bridge | Common - Between 50% and 80% cases |
| Generalized hypotonia | Common - Between 50% and 80% cases |
Other less frequent symptoms
Patients with Microcephaly and Short philtrum. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Wide mouth Coarse facial features Intellectual disability, severe Short stature Absent speech Spasticity Spastic tetraplegia Hyperreflexia Hypertonia Neonatal hypotonia Tetraplegia Hypoplasia of the corpus callosum Abnormal facial shape Delayed speech and language development Hypertelorism High palate Ptosis Bulbous nose Thick vermilion border Paraplegia Open mouth Spastic paraplegia Growth delay Ventriculomegaly Talipes equinovarus Febrile seizures Long eyelashes Babinski sign Wide nose Depressed nasal bridge Thin upper lip vermilion Prominent nose Facial hypotoniaRare Symptoms - Less than 30% cases
Inability to walk Obesity Slender finger Mild microcephaly Hydrocephalus Dandy-Walker malformation Muscular hypotonia of the trunk Anteverted nares Intrauterine growth retardation Flexion contracture Abnormal heart morphology Clinodactyly Posteriorly rotated ears Short distal phalanx of finger Everted lower lip vermilion Highly arched eyebrow Atrial septal defect Feeding difficulties Small nail Low anterior hairline Everted upper lip vermilion Anxiety Hyperactivity Low-set ears Narrow forehead Overweight Motor delay Hypotelorism Malar flattening Truncal obesity Strabismus Short chin Abnormality of the cerebral white matter Cerebral palsy Smooth philtrum Progressive spasticity Spastic diplegia Aspiration pneumonia Intellectual disability, progressive Focal-onset seizure Adducted thumb Pseudobulbar signs Wide nasal ridge Infantile muscular hypotonia Hearing impairment Talipes Drooling Apnea Sandal gap Loss of ability to walk Narrow mouth Holoprosencephaly Thick upper lip vermilion Fusion of the left and right thalami Epicanthus Ventricular septal defect Agenesis of corpus callosum Upslanted palpebral fissure Telecanthus Epileptic encephalopathy Camptodactyly Joint hypermobility Abnormality of digit Curly hair Delayed ability to walk Periventricular leukomalacia Small cerebral cortex Cerebral calcification Severe global developmental delay Simple febrile seizures Hypoplastic toenails Recurrent infections Cerebellar hypoplasia Arachnodactyly Thick eyebrow Thick lower lip vermilion Sparse scalp hair Gliosis Dystrophic toenail EEG abnormality Abnormal corpus callosum morphology Thick nasal alae Optic atrophy Frontal bossing Encephalopathy Myoclonus Macrotia Aspiration Abnormality of the columella Mandibular prognathia Poor speech Round face Downturned corners of mouth Cleft upper lip Synophrys Developmental regression Cleft lip Brachycephaly Short neck Widely spaced teeth Decreased body weight Broad-based gait Triangular face Deeply set eye Progressive microcephaly Prominent forehead Severe short stature Failure to thrive Scoliosis Long eyebrows Broad eyebrow Polyphagia Pointed chin Long face Dolichocephaly Intellectual disability, moderate Aggressive behavior Downslanted palpebral fissures Postnatal microcephaly Severe muscular hypotonia Pneumonia Abnormality of the nares Cerebellar atrophy Ataxia Acetabular dysplasia Excessive salivation Genu recurvatum Abnormality of the periventricular white matter Protruding tongue Waddling gait Pes planus Dystonia Dysarthria Muscular hypotonia Hypoplastic fifth toenail Proportionate short stature Bruxism Underdeveloped supraorbital ridges Long nose Hypertrichosis Short palpebral fissure Growth hormone deficiency Underdeveloped nasal alae Full cheeks Midface retrusion Short nose Intellectual disability, mild Horizontal eyebrow Abnormality of the cerebellar vermis Unilateral cleft lip Aplasia of the inferior half of the cerebellar vermisIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Broad nasal tip, related diseases and genetic alterations Macrocephaly and Leukodystrophy, related diseases and genetic alterations Flexion contracture and Apraxia, related diseases and genetic alterations Peripheral neuropathy and Cone/cone-rod dystrophy, related diseases and genetic alterations Hypertension and Hyperhidrosis, related diseases and genetic alterations