Microcephaly, and Triangular face

Diseases related with Microcephaly and Triangular face

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

Top matches:

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

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME

Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

Other less relevant matches:

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 5; MGORS5

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.

PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME Is also known as pancreatic and cerebellar agenesis|diabetes mellitus, permanent neonatal, with cerebellar agenesis

Related symptoms:

  • Seizures
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Top 5 symptoms//phenotypes associated to Microcephaly and Triangular face

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Short stature Low-set ears Epicanthus Seizures Protruding ear Intrauterine growth retardation Feeding difficulties Malar flattening Abnormality of the pinna Upslanted palpebral fissure Frontal bossing Thick vermilion border Scoliosis Downslanted palpebral fissures Talipes equinovarus Wide nasal bridge Prominent forehead

Rare Symptoms - Less than 30% cases

Smooth philtrum Pectus carinatum Ventriculomegaly Osteopenia Hip dislocation Postnatal growth retardation Hypoplasia of the corpus callosum Anteverted nares Long philtrum Gastroesophageal reflux Micrognathia Agenesis of corpus callosum Hypoplasia of the maxilla Neonatal hypotonia Patent ductus arteriosus Hydrocephalus Talipes Reduced subcutaneous adipose tissue Premature skin wrinkling Cutis laxa Hypertelorism Abnormality of the skeletal system Bulbous nose Broad forehead Atrial septal defect Skeletal muscle atrophy Short chin Poor speech Long face Wide mouth Deeply set eye Spasticity Decreased body weight Scaphocephaly Cerebral atrophy Aortic regurgitation Double outlet right ventricle Elevated hepatic transaminase Spontaneous abortion Hepatic failure Peripheral demyelination Decreased fetal movement Cholelithiasis Sepsis Prominent nose Hyperbilirubinemia Hepatomegaly Wormian bones Wide anterior fontanel Central hypotonia Colpocephaly Abnormal glycosylation Delayed cranial suture closure Dermal translucency Joint hypermobility Calcaneovalgus deformity Recurrent fractures Hypotelorism Blue sclerae Spinal canal stenosis Bowing of the long bones Brisk reflexes Narrow nasal ridge Large fontanelles Congenital hip dislocation Growth abnormality Redundant skin Unilateral renal agenesis Prominent superficial veins Abnormal cortical bone morphology Adducted thumb Renal tubular dysfunction Cataract Delayed closure of the anterior fontanelle Low hanging columella Narrow palate Deep philtrum Autistic behavior Flat occiput Autism Hypoplastic left heart Delayed ability to walk Inverted nipples Mitral stenosis Pointed chin Gastrointestinal dysmotility Inguinal hernia Hernia Macrocephaly Broad columella Oval face Narrow philtrum Infra-orbital crease Strabismus Corneal opacity Renal dysplasia Periorbital fullness Abnormal heart morphology Muscular hypotonia Cranial asymmetry Thin skin Elevated long chain fatty acids Oligohydramnios Abnormality of the hairline Abnormality of the male genitalia Respiratory insufficiency Congenital cataract Retrognathia Short palpebral fissure Coarse facial features Pes planus Hydronephrosis Telecanthus Hypermetropia Renal cyst Growth hormone deficiency Mitral valve prolapse Coarctation of aorta CNS demyelination Type II diabetes mellitus Joint laxity Muscular hypotonia of the trunk Hearing impairment Nystagmus Hyperreflexia Hypertonia Short nose Absent speech Babinski sign Cerebral cortical atrophy Generalized tonic-clonic seizures Spastic diplegia Arachnodactyly Thin vermilion border Inability to walk Brain atrophy Narrow forehead Postnatal microcephaly Progressive microcephaly Leukodystrophy Mutism Dry hair Cupped ear Overfolded helix Gait disturbance Depressed nasal bridge Intellectual disability, severe Severe short stature Anxiety Short philtrum Wide nose Broad-based gait Widely spaced teeth Myopathy Brittle hair High forehead EEG abnormality Aggressive behavior Intellectual disability, profound Open mouth Long nose Nail dystrophy Macroglossia Narrow face CNS hypomyelination Global brain atrophy Mandibular prognathia Severe intrauterine growth retardation Diabetes mellitus Hypoglycemia Apnea Joint stiffness Convex nasal ridge Optic nerve hypoplasia Hyperglycemia Bilateral talipes equinovarus Overlapping fingers Obesity Secundum atrial septal defect Ileus Neonatal insulin-dependent diabetes mellitus Meconium ileus Cerebellar agenesis Aplasia/Hypoplasia of the pancreas Midface retrusion Osteoporosis Brachycephaly Cerebellar hypoplasia Optic atrophy Long toe Elbow dislocation Cleft palate Cryptorchidism Motor delay Clinodactyly Delayed skeletal maturation Micropenis Microtia Microdontia Slender long bone Flexion contracture Prominent metopic ridge Mild global developmental delay Patellar aplasia Irregular epiphyses Hypoplasia of the capital femoral epiphysis Small earlobe Toe clinodactyly Birth length less than 3rd percentile Irregular femoral epiphysis Small foramen magnum


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