Delayed speech and language development, and Situs inversus totalis

Diseases related with Delayed speech and language development and Situs inversus totalis

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Situs inversus totalis that can help you solving undiagnosed cases.


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High match NEPHRONOPHTHISIS 20; NPHP20

Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Rod-cone dystrophy


SOURCES: OMIM DOID MONDO UMLS

More info about NEPHRONOPHTHISIS 20; NPHP20

Medium match CHROMOSOME 22q11.2 DUPLICATION SYNDROME

The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

CHROMOSOME 22q11.2 DUPLICATION SYNDROME Is also known as chromosome 22q11.2 microduplication syndrome;dup(22)(q11); duplication 22q11.2; trisomy 22q11.2

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: DOID MONDO ORPHANET GARD OMIM UMLS MESH SCTID

More info about CHROMOSOME 22q11.2 DUPLICATION SYNDROME

Medium match BARDET-BIEDL SYNDROME 1; BBS1

Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Hearing impairment


SOURCES: OMIM UMLS DOID MESH MONDO GARD EFO

More info about BARDET-BIEDL SYNDROME 1; BBS1

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Other less relevant matches:

Medium match JOUBERT SYNDROME 1; JBTS1

Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as joubert syndrome;jbts, joubert-boltshauser syndrome, cerebelloparenchymal disorder iv;cpd4, cerebellooculorenal syndrome 1;cors1;cpd iv; cerebelloparenchymal disorder iv; classic joubert syndrome; joubert syndrome type a; joubert-boltshauser syndrome; pure joubert syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM SCTID MONDO ORPHANET DOID

More info about JOUBERT SYNDROME 1; JBTS1

Medium match RENPENNING SYNDROME 1; RENS1

Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mental retardation, x-linked, renpenning type, sutherland-haan x-linked mental retardation syndrome;shs, golabi-ito-hall syndrome, mental retardation, x-linked, with spastic diplegia, mental retardation, x-linked, syndromic 3;mrxs3, mental retardation, x-linked, syndromic 8;mrxs8, mental retardation, x-linked 55;mrx55

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET SCTID UMLS

More info about RENPENNING SYNDROME 1; RENS1

Medium match BARDET-BIEDL SYNDROME 8; BBS8

BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Cognitive impairment


SOURCES: MONDO MESH OMIM GARD UMLS DOID

More info about BARDET-BIEDL SYNDROME 8; BBS8

Medium match NEPHRONOPHTHISIS 2; NPHP2

NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Anemia
  • Hepatomegaly
  • Hypertension


SOURCES: MONDO OMIM

More info about NEPHRONOPHTHISIS 2; NPHP2

Medium match BARDET-BIEDL SYNDROME 17; BBS17

BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency


SOURCES: UMLS DOID OMIM MONDO

More info about BARDET-BIEDL SYNDROME 17; BBS17

Medium match HETEROTAXY, VISCERAL, 7, AUTOSOMAL; HTX7

Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015).For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Ventricular septal defect
  • Atrial septal defect
  • Abnormal heart morphology


SOURCES: MONDO OMIM UMLS

More info about HETEROTAXY, VISCERAL, 7, AUTOSOMAL; HTX7

Medium match FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A

Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (OMIM ). CFEOM2 (OMIM ) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008).Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM. Genetic Heterogeneity of CFEOM3The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B (OMIM ), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C (OMIM ), which maps to chromosome 13q.

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A Is also known as feom3 locus

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Ptosis
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: MESH OMIM MONDO UMLS

More info about FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Situs inversus totalis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Situs inversus totalis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Rod-cone dystrophy Renal cyst Hearing impairment Heterotaxy Specific learning disability Ventricular septal defect Neurological speech impairment Mandibular prognathia Tics Brachydactyly Strabismus Obesity Nevus Renal insufficiency Epicanthus Micropenis Hypogonadism Coloboma Postaxial polydactyly Foot polydactyly Cognitive impairment High palate Iris coloboma Abnormal facial shape Seizures Ptosis Pica Stage 5 chronic kidney disease Nephronophthisis Micrognathia

Rare Symptoms - Less than 30% cases


Chorioretinal coloboma Absent speech Joint contracture of the hand Postaxial hand polydactyly Common atrium Microcephaly Asthma Low-set ears Aganglionic megacolon Anomalous pulmonary venous return Interrupted aortic arch Hepatic fibrosis Transposition of the great arteries Total anomalous pulmonary venous return Decreased testicular size Ataxia Nystagmus Anosmia Cataract Hypertension Hand polydactyly Macrocephaly Generalized hypotonia Short stature Autosomal dominant inheritance Retinal dystrophy Diabetes mellitus Retinal degeneration Abnormality of the kidney Paraplegia High, narrow palate Long face Atrial septal defect Brachycephaly Milia Cleft palate Hydrometrocolpos Muscular hypotonia Intellectual disability, severe Abnormality of cardiovascular system morphology Behavioral abnormality Abnormal cardiac septum morphology Prominent forehead Abnormality of the genital system Failure to thrive Hypospadias Anxiety Polydipsia Apnea Undetectable electroretinogram Narrow face External genital hypoplasia Polyuria Nasal speech Abnormal heart morphology Tetralogy of Fallot Growth delay Abnormality of the rib cage Macrodontia Ankylosis Round ear Broad columella High hypermetropia Dilatation Sprengel anomaly Abnormality of the thumb Decreased head circumference Renal dysplasia Abnormal hair laboratory examination Anteverted ears Panic attack Sparse lateral eyebrow Respiratory insufficiency Hepatomegaly Narrow foot Small face Anemia Thin eyebrow Restrictive external ophthalmoplegia Mild short stature Upslanted palpebral fissure Joint stiffness Protruding ear Thin upper lip vermilion Macrotia Severe short stature Narrow mouth Alopecia X-linked recessive inheritance Short philtrum Pes cavus Clinodactyly of the 5th finger Pectus excavatum Microphthalmia Cerebral atrophy Malar flattening Long philtrum Abnormality of the nervous system Anal atresia Prominent metopic ridge Renal hypoplasia Failure to thrive in infancy Spastic diplegia Cupped ear Phimosis Poor suck Cachexia Abnormality of the hair Abnormality of the ribs Sparse hair Prominent nose Hypoplasia of the maxilla Triangular face Arachnodactyly Hypermetropia Bulbous nose Spastic paraplegia Camptodactyly Polyhydramnios Pulmonary insufficiency Acidosis Abnormal tricuspid valve morphology Flexion contracture Atrial situs inversus Interrupted inferior vena cava with azygous continuation Hypoplasia of right ventricle Mitral atresia Pulmonary artery hypoplasia Right aortic arch Agenesis of corpus callosum Nasal polyposis Complete atrioventricular canal defect Nonprogressive restrictive external ophthalmoplegia Abnormal aortic valve morphology Polysplenia Pulmonary artery atresia Peripheral neuropathy Facial palsy Atrioventricular canal defect Amblyopia Compensatory chin elevation Superior rectus atrophy Congenital fibrosis of extraocular muscles Corneal scarring Wrist flexion contracture External ophthalmoplegia Exotropia Camptodactyly of finger Scarring Esotropia Acrania Peripheral axonal neuropathy Ophthalmoplegia Abnormality of movement Chronic sinusitis Ciliary dyskinesia Respiratory failure Polycystic kidney dysplasia Cholestatic liver disease Tubulointerstitial nephritis Elevated serum creatinine Enlarged kidney Hyperkalemia Levator palpebrae superioris atrophy Nephritis Hyperechogenic kidneys Cholestasis Oligohydramnios Nephropathy Metabolic acidosis Pulmonary hypoplasia Abnormality of the liver Portal fibrosis Oliguria Dextrocardia Mesoaxial polydactyly Cyanosis Sinusitis Otitis media Intestinal malrotation Dyskinesia Bilateral postaxial polydactyly Hyposmia Tubulointerstitial abnormality Postaxial foot polydactyly Cone/cone-rod dystrophy Hyperkalemic metabolic acidosis Chronic tubulointerstitial nephritis Absence of renal corticomedullary differentiation Renal cortical microcysts Intellectual disability, mild Heterotopia Blindness Glaucoma Hirsutism Astigmatism Short foot Pulmonic stenosis Retinopathy Reduced visual acuity Syndactyly Amenorrhea Myopia Visual impairment Cryptorchidism Bilateral trilobed lungs Subependymal cysts Anterior creases of earlobe Hypodontia Pigmentary retinopathy Persistent left superior vena cava Tricuspid regurgitation Microphallus Tapetoretinal degeneration Poor coordination Menstrual irregularities Broad foot Macular dystrophy Hypoplasia of the uterus Primary amenorrhea Truncal obesity Clubbing Radial deviation of finger Bicuspid aortic valve Left ventricular hypertrophy Dental crowding Aplasia/Hypoplasia of the thymus Displacement of the external urethral meatus Gait imbalance Autism Wide nose Smooth philtrum Attention deficit hyperactivity disorder Abnormality of the pinna Sporadic Hydronephrosis High forehead Thick vermilion border Midface retrusion Downslanted palpebral fissures Depressed nasal bridge Motor delay Hypertelorism Progressive Poor speech Gastrointestinal hemorrhage Velopharyngeal insufficiency Stridor Urethral stenosis Abdominal situs inversus Abnormality of the pharynx Double outlet right ventricle Dyslexia Intestinal bleeding Hypoplastic left heart Depressed nasal ridge Abnormality of immune system physiology Obsessive-compulsive behavior Sleep apnea Laryngomalacia Abnormality of the genitourinary system Stereotypy Vaginal atresia Abnormality of the ovary Skeletal muscle atrophy Optic nerve coloboma Breathing dysregulation Abnormal pattern of respiration Agenesis of cerebellar vermis Abnormality of the hypothalamus-pituitary axis Central apnea Self-mutilation Impaired smooth pursuit Meningoencephalocele Retinal dysplasia Protruding tongue Occipital encephalocele Biparietal narrowing Retinal coloboma Abnormality of neuronal migration Abnormal saccadic eye movements Abnormality of ocular smooth pursuit Cephalocele Triangular-shaped open mouth Wide nasal bridge Intrauterine growth retardation Hyperreflexia Feeding difficulties Spasticity Sensorineural hearing impairment Occipital myelomeningocele Elongated superior cerebellar peduncle Hemifacial spasm Enlarged fossa interpeduncularis Brainstem dysplasia Neonatal breathing dysregulation Dysgenesis of the cerebellar vermis Episodic tachypnea Molar tooth sign on MRI Hypoplasia of the brainstem Biliary tract abnormality Heterogeneous Abnormality of the eye Aggressive behavior Telecanthus Feeding difficulties in infancy Hyperactivity Cerebellar hypoplasia Hydrocephalus Abnormality of the foot Hypoplasia of the corpus callosum Tremor Gait disturbance Anteverted nares Septate vagina Nephrogenic diabetes insipidus Prominent nasal bridge Polymicrogyria Tachypnea Abnormal form of the vertebral bodies Oculomotor apraxia Aplasia/Hypoplasia of the corpus callosum Dandy-Walker malformation Encephalocele Open mouth Cerebellar vermis hypoplasia Narrow forehead Downturned corners of mouth Apraxia Oral cleft Macroglossia Abnormality of eye movement Highly arched eyebrow Abnormality of skin pigmentation Sensory exotropia



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