Delayed speech and language development, and Tetralogy of Fallot

Diseases related with Delayed speech and language development and Tetralogy of Fallot

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


Top matches:

Low match DUPLICATION/INVERSION 15Q11

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15); isodicentric 15 chromosome; non-distal tetrasomy 15q; non-telomeric tetrasomy 15q; idic(15)

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Strabismus


SOURCES: MONDO UMLS ORPHANET MESH GARD

More info about DUPLICATION/INVERSION 15Q11

Low 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

Low match KLEEFSTRA SYNDROME 1; KLEFS1

Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.

KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome, 9q- syndrome, 9q subtelomeric deletion syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID MONDO ORPHANET OMIM

More info about KLEEFSTRA SYNDROME 1; KLEFS1

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Other less relevant matches:

Low 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

Low match MOWAT-WILSON SYNDROME; MOWS

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease, hirschsprung disease-mental retardation syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia


SOURCES: SCTID ORPHANET OMIM UMLS

More info about MOWAT-WILSON SYNDROME; MOWS

Low match ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1

Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (OMIM ), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).

ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 Is also known as mandibulofacial dysostosis, treacher collins type, with limb anomalies, nager acrofacial dysostosis, afd, nager type, nager syndrome;mandibulofacial dysostosis with preaxial limb anomalies; nafd; nager acrofacial dysostosis; preaxial acrodysostosis

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Pica
  • Hearing impairment


SOURCES: ORPHANET SCTID GARD MONDO MESH UMLS OMIM DOID

More info about ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1

Low match RITSCHER-SCHINZEL SYNDROME 1; RTSC1

The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay (summary by Leonardi et al., 2001; Seidahmed et al., 2011). Genetic Heterogeneity of Ritscher-Schinzel SyndromeSee also RTSC2 (OMIM ), caused by mutation in the CCDC22 gene (OMIM ) on chromosome Xp11.

RITSCHER-SCHINZEL SYNDROME 1; RTSC1 Is also known as craniocerebellocardiac dysplasia, 3c syndrome, dandy-walker-like malformation with atrioventricular septal defect;craniocerebellocardiac dysplasia; ritscher-schinzel syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: SCTID UMLS OMIM MONDO DOID ORPHANET

More info about RITSCHER-SCHINZEL SYNDROME 1; RTSC1

Low match VELOCARDIOFACIAL SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome, vcf syndrome;vcfs, shprintzen vcf syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM

More info about VELOCARDIOFACIAL SYNDROME

Low match DIGEORGE SYNDROME; DGS

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as chromosome 22q11.2 deletion syndrome, hypoplasia of thymus and parathyroids, third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM

More info about DIGEORGE SYNDROME; DGS

Low match COFFIN-SIRIS SYNDROME 1; CSS1

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); and CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as coffin-siris syndrome;css, fifth digit syndrome, mental retardation, autosomal dominant 12;mrd12

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: OMIM MONDO

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Tetralogy of Fallot

Symptoms // Phenotype % cases
Ventricular septal defect Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Tetralogy of Fallot. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of cardiovascular system morphology

Common Symptoms - More than 50% cases


Pica

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Autosomal dominant inheritance

Common Symptoms - More than 50% cases


Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Patent ductus arteriosus

Common Symptoms - More than 50% cases


Hypospadias

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect

Common Symptoms - More than 50% cases


Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Hydronephrosis

Uncommon Symptoms - Between 30% and 50% cases


Brachydactyly Cryptorchidism Micrognathia Unilateral renal agenesis Posteriorly rotated ears Abnormality of the pinna Ptosis Low-set ears Intellectual disability, severe Short philtrum Anxiety Conotruncal defect Mandibular prognathia Nasal speech Hydrocephalus Iris coloboma Hypoplasia of the corpus callosum Inguinal hernia Brachycephaly Anal atresia Hernia Agenesis of corpus callosum Pulmonic stenosis Feeding difficulties Epicanthus Bulbous nose Aggressive behavior Abnormal cardiac septum morphology Obsessive-compulsive behavior Delayed eruption of teeth Retrognathia Abnormality of the skeletal system Cleft lip Vesicoureteral reflux Postnatal growth retardation Interrupted aortic arch Ventriculomegaly Coarctation of aorta Aplasia of the uterus Velopharyngeal insufficiency Bicuspid aortic valve Recurrent respiratory infections Obesity Fever Malar flattening Nevus Specific learning disability Recurrent infections High, narrow palate High forehead Microphthalmia Motor delay Short neck Umbilical hernia Milia Coloboma Depressed nasal bridge Tics Immunodeficiency Stereotypy Autistic behavior Midface retrusion Posterior embryotoxon Abnormality of the genital system Synophrys Renal agenesis Preauricular skin tag Talipes equinovarus Neurological speech impairment Intrauterine growth retardation Low posterior hairline Wide nasal bridge Bifid uvula

Rare Symptoms - Less than 30% cases


Telecanthus Sparse hair Depressivity Nephrotic syndrome Joint stiffness Camptodactyly Finger syndactyly Syndactyly Absent speech Dilatation Sacral meningocele Nystagmus Vomiting Right aortic arch with mirror image branching Renal hypoplasia Arteria lusoria Chorioretinal coloboma Poor suck Aplasia of the thymus Cupped ear Spastic diplegia Impaired T cell function Cleft upper lip Retinal vascular tortuosity Hypoplasia of the maxilla Duodenal stenosis Right aortic arch Perimembranous ventricular septal defect Broad columella Graves disease Juvenile rheumatoid arthritis Seborrheic dermatitis Pain Frontal bossing Truncus arteriosus Amenorrhea Vitiligo Hypothyroidism Conductive hearing impairment Skeletal dysplasia Wide mouth Prominent nasal bridge Microtia Autoimmunity Toe syndactyly Polymicrogyria Blepharophimosis Aortic valve stenosis Arthritis Thrombocytopenia Hemolytic anemia Anemia Cognitive impairment Enlarged cisterna magna Pierre-Robin sequence Autosomal recessive inheritance Flexion contracture Kyphosis Abnormality of the hand Feeding difficulties in infancy Abnormality of the kidney Dandy-Walker malformation Growth hormone deficiency Clinodactyly Chorea Myelomeningocele Aplasia/Hypoplasia of the cerebellum Esotropia Bipolar affective disorder Autoimmune thrombocytopenia Open mouth Sparse scalp hair Meningocele Autoimmune hemolytic anemia Aganglionic megacolon Inflammation of the large intestine Hypoparathyroidism Rheumatoid arthritis Psoriasiform dermatitis Thin upper lip vermilion Ectopic kidney Hallux valgus Submucous cleft hard palate Acne Cholelithiasis Arnold-Chiari malformation Schizophrenia Purpura Hypocalcemia Spina bifida Renal dysplasia Primary amenorrhea Astigmatism Macrotia Cerebellar vermis hypoplasia Coarse facial features Hypoplastic left heart Double outlet right ventricle Heterotaxy Short nose Cerebral cortical atrophy Upslanted palpebral fissure Constipation Gastroesophageal reflux Situs inversus totalis Broad forehead Renal cyst Everted lower lip vermilion Single transverse palmar crease Hypoplasia of penis Psychosis Apathy Abnormality of the genitourinary system Narrow face Pulmonary artery stenosis Echolalia Clinodactyly of the 5th finger Hyperactivity Low-set, posteriorly rotated ears Deeply set eye Broad nasal tip Drooling Precocious puberty Severe expressive language delay Thick vermilion border Failure to thrive Prominent forehead Autism Sporadic Attention deficit hyperactivity disorder Wide nose Poor speech Supernumerary nipple Intestinal malrotation Cataract Narrow mouth Alopecia Pectus excavatum Delayed skeletal maturation Cerebellar malformation Unilateral primary pulmonary dysgenesis Cerebellar atrophy Hypoplasia of the thymus Neoplasm Primum atrial septal defect Facial hemangioma Humoral immunodeficiency Contractures of the large joints Dementia Posterior fossa cyst Lateral clavicle hook Abnormality of the fontanelles or cranial sutures Abnormal tricuspid valve morphology Abnormal mitral valve morphology Unilateral lung agenesis Duodenal ulcer Hypotrichosis of the scalp Ectopic posterior pituitary Absent fingernail Gastric ulcer Abnormality of the head Perisylvian polymicrogyria Vascular ring Alcoholism Generalized hypertrichosis Tetany Congenital cataract Congenital conductive hearing impairment Anterior segment developmental abnormality Mental deterioration Femoral hernia Complete atrioventricular canal defect Neural tube defect Mitral stenosis Lethal skeletal dysplasia Amblyopia Short distal phalanx of the 5th finger Prominent interphalangeal joints Craniosynostosis Hand polydactyly Hemivertebrae Narrow palate Absent fifth fingernail Abnormality of the hip bone Wormian bones Exotropia Horseshoe kidney Lumbosacral hirsutism Broad thumb Large fontanelles Sclerocornea Abnormality of neuronal migration Aplasia/Hypoplasia of the patella Missing ribs Communicating hydrocephalus Aplasia/Hypoplasia of the nipples Intussusception Facial hypertrichosis Single umbilical artery Ectopic anus Hypoplastic fingernail Hypoplastic fifth fingernail Adrenal hypoplasia Hypertonia Congenital glaucoma Atrioventricular canal defect Mesomelia Prominent occiput Premature thelarche Anterior pituitary hypoplasia Dysmetria Abdominal pain Choanal atresia Confusion Abnormality of the endocrine system Decreased fetal movement Mood swings Tall stature Visual impairment Parathyroid agenesis Hypotelorism Delusions Hypotrichosis Small nail Hearing abnormality Axonal loss Type I truncus arteriosus Hypertrichosis Congenital diaphragmatic hernia Paranoia Psychotic episodes Pulmonary artery atresia Hypoglycemia Giant platelets Joint laxity Respiratory tract infection Cystic renal dysplasia Abnormality of the larynx Severe global developmental delay Myopia Thick eyebrow Short distal phalanx of finger Platybasia Hirsutism Perseveration Eczema Thick lower lip vermilion Low anterior hairline Parathyroid hypoplasia Rectal prolapse Hallucinations Holoprosencephaly Anonychia Partial agenesis of the corpus callosum Dislocated radial head Central nervous system degeneration Multicystic kidney dysplasia Abnormality of digit Dysdiadochokinesis Short 5th finger Peripheral demyelination Recurrent hypoglycemia Underdeveloped nasal alae Short sternum Perineal fistula Patellar hypoplasia Narrow palpebral fissure Cutis marmorata Basal ganglia calcification Abnormality of the ear Generalized hirsutism Abnormality of the vasculature Esophoria Vascular tortuosity Abnormality of the thymus Long eyelashes Accelerated skeletal maturation Abnormality of the middle ear Short palpebral fissure Myopathic facies Coxa valga Spina bifida occulta Hemangioma Hypoplasia of the brainstem Anal stenosis Sacral dimple Elevated alkaline phosphatase Bruxism Limb undergrowth Exaggerated cupid's bow Cerebral atrophy Long philtrum Intellectual disability, mild Blindness Skeletal muscle atrophy Hyperreflexia Spasticity Sensorineural hearing impairment Tracheobronchomalacia U-Shaped upper lip vermilion X-linked recessive inheritance Abnormal myelination Persistence of primary teeth Bronchomalacia Advanced eruption of teeth Thickened helices Self-mutilation Protruding tongue Natal tooth Tracheomalacia Abnormal renal morphology Pes cavus Severe short stature Self-injurious behavior Abnormality of the hair Sparse lateral eyebrow Small face Sprengel anomaly High hypermetropia Mild short stature Prominent metopic ridge Failure to thrive in infancy Phimosis Cachexia Joint contracture of the hand Abnormality of the ribs Diabetes mellitus Prominent nose Decreased testicular size Paraplegia Triangular face Arachnodactyly Long face Hypermetropia Spastic paraplegia Abnormality of the nervous system Protruding ear Bowel incontinence Impulsivity Abnormality of the rib cage Depressed nasal ridge Anomalous pulmonary venous return Abnormality of the pharynx Dyslexia Transposition of the great arteries Intestinal bleeding Stridor Abnormality of immune system physiology Sleep apnea Laryngomalacia Gastrointestinal hemorrhage Total anomalous pulmonary venous return Smooth philtrum Apnea Severe receptive language delay Self-biting Abnormality of brain morphology Neurodevelopmental delay Gonadal dysgenesis 2-3 toe syndactyly Joint hypermobility Hypogonadism Abdominal situs inversus Urethral stenosis Chronic otitis media Developmental regression Tented upper lip vermilion Pyloric stenosis Macroglossia Sleep disturbance Limitation of joint mobility Highly arched eyebrow Downturned corners of mouth Flat face Abnormality of the cerebral white matter Facial asymmetry Dyspnea Common atrium Micropenis Arrhythmia Renal insufficiency Anteverted nares Bilateral trilobed lungs Subependymal cysts Anterior creases of earlobe Aplasia/Hypoplasia of the thymus Persistent left superior vena cava Displacement of the external urethral meatus Ankylosis Abnormality of the thumb Oral cleft Non-midline cleft lip Hypoplasia of the zygomatic bone Absent radius Aplasia/Hypoplasia of the thumb Aplasia/Hypoplasia of the radius Absent thumb Overlapping toe Facial cleft Atrioventricular block Limited elbow extension Aplasia/Hypoplasia of the eyebrow Abnormality of the lower limb Broad hallux Radial deviation of finger Triphalangeal thumb Radioulnar synostosis Atresia of the external auditory canal Urticaria Hypoplasia of the radius Abnormal palate morphology Short toe Hemiparesis Trismus Bicornuate uterus Premature birth Sparse lower eyelashes Decreased antibody level in blood Postural instability Death in infancy Oxycephaly Glaucoma Cerebellar hypoplasia Coma Macrocephaly Optic atrophy Hypoplasia of first ribs Lower eyelid coloboma Aqueductal stenosis Hemifacial hypoplasia Laryngeal hypoplasia Short distal phalanx of the thumb Gastroschisis Hypoplasia of the epiglottis Foot oligodactyly Mandibulofacial dysostosis Abnormality of the cervical spine Abnormal nasal morphology Phocomelia Short thumb Hip dislocation Anteverted ears Brain atrophy Pointed chin Absence seizures Postnatal microcephaly Fine hair Recurrent otitis media Otitis media Sloping forehead Abdominal distention Febrile seizures Focal seizures Widely spaced teeth Tapered finger Pectus carinatum Camptodactyly of finger Abnormal hair laboratory examination Decreased head circumference Narrow foot Panic attack Round ear Macrodontia Thin eyebrow Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Congestive heart failure Deep plantar creases Respiratory insufficiency Pulmonary artery sling Generalized muscle hypertrophy Uplifted earlobe Typical absence seizures Atypical absence seizures Esodeviation Happy demeanor Subglottic stenosis Broad eyebrow Prominent nasal tip Bifid scrotum Low hanging columella Tracheal stenosis Broad hallux phalanx Chronic constipation Large earlobe Drowsiness Misalignment of teeth Abnormal eyebrow morphology External ear malformation Sparse eyebrow Short distal phalanx of the 5th toe



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