Microphthalmia, and Webbed neck

Diseases related with Microphthalmia and Webbed neck

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


Top matches:

High match BARAITSER-WINTER SYNDROME 2; BRWS2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

High match SPONDYLO-OCULAR SYNDROME


Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

High match MONOSOMY 13Q14


Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

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Other less relevant matches:

High match MECKEL SYNDROME, TYPE 1; MKS1


Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

High match MICROPHTHALMIA, LENZ TYPE


Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, LENZ TYPE

High match BARAITSER-WINTER SYNDROME 1; BRWS1


BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

High match CHARGE SYNDROME


CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

High match SMITH-LEMLI-OPITZ SYNDROME


Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

High match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Medium match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Top 5 symptoms//phenotypes associated to Microphthalmia and Webbed neck

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Hearing impairment Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

Patients with Microphthalmia and Webbed neck. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Short neck

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Iris coloboma

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Abnormal heart morphology

Common Symptoms - More than 50% cases


Long philtrum

Uncommon Symptoms - Between 30% and 50% cases


Ptosis

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Hydronephrosis

Uncommon Symptoms - Between 30% and 50% cases


Coloboma

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Intrauterine growth retardation Anteverted nares Atrial septal defect Abnormality of cardiovascular system morphology Abnormal cardiac septum morphology Scoliosis Patent ductus arteriosus Syndactyly Hydrocephalus Epicanthus Cataract Wide nasal bridge Retrognathia Ventriculomegaly Wide mouth Nystagmus Micropenis Hernia Clinodactyly Downslanted palpebral fissures Talipes equinovarus Clinodactyly of the 5th finger Amblyopia Abnormality of the pinna Finger syndactyly Hip dislocation Holoprosencephaly Cleft upper lip Anal atresia Talipes Hypospadias Low-set, posteriorly rotated ears Cleft lip Short nose Feeding difficulties in infancy Brachydactyly Trigonocephaly Feeding difficulties Flexion contracture Failure to thrive High palate Chorioretinal coloboma Intellectual disability, severe Depressed nasal bridge Agenesis of corpus callosum Thin upper lip vermilion Cleft palate Frontal bossing Attention deficit hyperactivity disorder Short thumb Renal agenesis Prominent forehead Camptodactyly Postnatal growth retardation Microtia Strabismus Overfolded helix Pyloric stenosis Renal hypoplasia Toe syndactyly Narrow chest Optic atrophy Autism Dilatation Abnormality of the skeletal system Motor delay Multicystic kidney dysplasia Abnormality of the genital system Coarctation of aorta Dandy-Walker malformation Midface retrusion Intestinal malrotation Pulmonary hypoplasia Behavioral abnormality Bicuspid aortic valve Glaucoma Oral cleft Kyphosis Pes planus Osteopenia Posteriorly rotated ears Retinal coloboma Osteoporosis Pachygyria Highly arched eyebrow Low posterior hairline Spasticity Pectus carinatum

Rare Symptoms - Less than 30% cases


Wide intermamillary distance Recurrent otitis media Aganglionic megacolon Constipation Dental crowding Microcornea Preauricular skin tag Abnormality of the ribs Aplasia/Hypoplasia of the corpus callosum Renal hypoplasia/aplasia Self-injurious behavior Visual loss Growth hormone deficiency Choanal atresia Hyperlordosis Delayed eruption of teeth Blindness Abnormality of the urinary system Reduced number of teeth Abnormal eyelash morphology Upper limb undergrowth Mitral valve prolapse Horseshoe kidney Thin vermilion border Abnormality of the dentition Telecanthus Pectus excavatum Recurrent infections Kyphoscoliosis Aggressive behavior Autistic behavior Overlapping fingers Neurological speech impairment Abnormality of dental morphology Proximal placement of thumb External ear malformation Anophthalmia Congestive heart failure Conductive hearing impairment Long palpebral fissure Lissencephaly Leukemia Smooth philtrum Inguinal hernia Immunodeficiency Aortic valve stenosis Hypogonadism Wide nose Abnormality of the outer ear Ectropion Tracheoesophageal fistula Heterotopia Postnatal microcephaly Esophageal atresia Pointed chin Arthrogryposis multiplex congenita Cerebral cortical atrophy Facial asymmetry Abnormal palmar dermatoglyphics Pulmonic stenosis Bifid scrotum Self-mutilation Joint stiffness Down-sloping shoulders Sclerocornea Microdontia Hypoplasia of the corpus callosum Hyperactivity Gastroesophageal reflux Myopia Visual impairment Edema Polyhydramnios Hypothyroidism Narrow mouth Brachycephaly Hand polydactyly U-Shaped upper lip vermilion Aplasia/Hypoplasia of the cerebellum Accelerated skeletal maturation Eyelid coloboma Lumbar hyperlordosis Abnormal form of the vertebral bodies Spina bifida Duodenal atresia Renal dysplasia Dolichocephaly Omphalocele Thick eyebrow Premature birth Oligohydramnios Everted lower lip vermilion Postaxial hand polydactyly Hyperextensible skin Hammertoe Labial hypoplasia Renal cyst Single transverse palmar crease Postaxial polydactyly Hypotelorism Aplasia/Hypoplasia of the earlobes Polydactyly Cerebellar hypoplasia Eczema Abnormal dermatoglyphics Short toe Patent foramen ovale Congenital diaphragmatic hernia Abnormally large globe Spontaneous abortion Radial deviation of finger Shield chest Fever Atrioventricular canal defect Proptosis Abnormality of the larynx Hydroureter Hypoglycemia Intellectual disability, moderate High forehead Breech presentation Rhizomelia Prominent nasal bridge Broad forehead Double outlet right ventricle Metatarsus adductus External genital hypoplasia Thickened helices Natal tooth Hypoplasia of penis Ambiguous genitalia Mesomelic short stature Median cleft palate Hip subluxation Decreased fetal movement Intellectual disability, profound Cutaneous photosensitivity Split hand Broad alveolar ridges Limb undergrowth Sleep disturbance Severe short stature Narrow forehead Micromelia Ureteropelvic junction obstruction Peripheral demyelination Upslanted palpebral fissure Ectopic calcification Increased nuchal translucency Hypopigmentation of the skin Abnormality of the kidney Gastroschisis Skeletal dysplasia Gastrointestinal dysmotility Advanced eruption of teeth Postaxial foot polydactyly Tracheal stenosis Overlapping toe 2-3 toe syndactyly Severe failure to thrive Adrenal insufficiency Hyperkalemia Increased serum testosterone level Male pseudohermaphroditism Mesomelia Cutis marmorata Severe intrauterine growth retardation Abnormal lung lobation Epiphyseal stippling Hypopigmentation of hair Abnormality of digit Biparietal narrowing Aplasia/Hypoplasia of the radius Ulnar deviation of finger Excessive daytime somnolence Sex reversal Decreased circulating aldosterone level Increased number of teeth Gingival overgrowth Hypocholesterolemia Abnormal localization of kidney Aplasia/Hypoplasia affecting the eye Abnormal renal morphology Hyperbilirubinemia Abnormality of dental enamel Hypercholesterolemia Scrotal hypoplasia Unilateral renal agenesis Cholestatic liver disease Abnormality of the metacarpal bones Optic nerve hypoplasia Bicornuate uterus Poor suck Bifid tongue Precocious puberty Hyponatremia Clitoral hypertrophy Microglossia Microretrognathia Talipes calcaneovalgus Megakaryocyte dysplasia Abnormality of the abdominal wall Lumbar scoliosis Knee dislocation Talipes equinovalgus Multiple joint dislocation Abnormality of the foot Shoulder dislocation Hypermetropia Joint laxity Delayed skeletal maturation Respiratory distress Abnormality of the curvature of the vertebral column Congenital thrombocytopenia Deep palmar crease Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism Urethral stenosis Long hallux Endocardial fibroelastosis Small face Nasolacrimal duct obstruction Lymphedema Sandal gap Cutis laxa Radioulnar synostosis Spondyloepiphyseal dysplasia Bilateral talipes equinovarus Thoracic hypoplasia Congenital glaucoma Joint dislocation Elbow flexion contracture Restrictive ventilatory defect Meningitis Narrow nasal bridge Left ventricular hypertrophy Genu valgum Abnormal lung morphology Aortic root aneurysm Mitral regurgitation Blue sclerae Cardiomegaly Esotropia Short metacarpal Recurrent fractures Flat face Arachnodactyly 11 pairs of ribs Generalized osteoporosis Abnormality of the head Broad columella Periventricular gray matter heterotopia Thrombocytopenia Sinusitis Pancytopenia Dehydration Otitis media Decreased antibody level in blood Bruising susceptibility Tachycardia Metacarpophalangeal joint hyperextensibility Small for gestational age Skin rash Craniosynostosis Recurrent respiratory infections Cerebral atrophy Bone marrow hypocellularity Intellectual disability, mild Macrocephaly Elevated 7-dehydrocholesterol Abnormality of limbs Facial capillary hemangioma Opsoclonus Severe photosensitivity Alveolar ridge overgrowth Sleep-wake cycle disturbance Septate vagina Abnormality of the gallbladder Hypoplasia of the frontal lobes Leukodystrophy Azoospermia Abnormal thrombocyte morphology Hypertropia Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Chronic constipation Retinal dysplasia Diastasis recti Missing ribs Bipolar affective disorder Wheezing Transposition of the great arteries Slender finger Accessory carpal bones Abnormal palate morphology Enlarged metaphyses Prominent antitragus Spatulate thumbs Partial agenesis of the corpus callosum Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Heart murmur Broad distal phalanges of all fingers Schizophrenia Infantile muscular hypotonia Tachypnea Postural instability Dysphagia Hypertonia Cerebellar dysplasia Hypoplasia of the bladder Urethral obstruction Cerebral hypoplasia Neural tube defect Urethral atresia Meningoencephalocele Lobulated tongue Elevated alpha-fetoprotein Ambiguous genitalia, female Accessory spleen Portal fibrosis Olfactory lobe agenesis Ambiguous genitalia, male Cystic renal dysplasia Bile duct proliferation Abnormality of the uterus Asplenia Single umbilical artery Meningocele Adrenal hypoplasia Foot polydactyly Abnormality of the ureter Elevated amniotic fluid alpha-fetoprotein Large placenta Occipital encephalocele Misalignment of teeth Abnormality of metabolism/homeostasis Dystonia Ciliary body coloboma Agenesis of maxillary lateral incisor Complete duplication of thumb phalanx Long thorax Abnormality of the shoulder Ankyloblepharon Rectal prolapse Optic nerve coloboma Abnormality of the clavicle Occipital meningocele Short clavicles Agenesis of permanent teeth Spastic diplegia Bilateral cryptorchidism Clubbing Muscle stiffness Joint contracture of the hand Brain atrophy High, narrow palate Camptodactyly of finger Craniorachischisis Anencephaly Preaxial polydactyly Mandibular prognathia Long fingers Unilateral cryptorchidism Disproportionate short-trunk short stature Vertebral compression fractures Facial hypotonia Abnormality of the antihelix Abnormal eyebrow morphology Posterior subcapsular cataract Thoracic kyphosis Iris hypopigmentation Subcapsular cataract Preauricular pit Abnormality of the intervertebral disk Hemiplegia Increased susceptibility to fractures Decreased body weight Retinal detachment Unsteady gait Joint hyperflexibility Congenital cataract Platyspondyly Depressivity Muscle weakness Long toe Aplasia/Hypoplasia of the lens Polycystic kidney dysplasia Aplasia/Hypoplasia of the thumb Arnold-Chiari malformation Hepatic fibrosis Bowing of the long bones Encephalocele Sloping forehead Splenomegaly Leukocoria Anteverted ears Retinoblastoma Abnormality of the gastrointestinal tract Absent septum pellucidum Dysplastic aortic valve Supernumerary nipple Deep philtrum Finger clinodactyly Wide anterior fontanel Open mouth Bulbous nose Protruding ear Muscular hypotonia of the trunk Delayed speech and language development Cognitive impairment Left hemiplegia Weight loss Coarse facial features Diarrhea Choanal stenosis Lacrimation abnormality Abnormal aortic valve morphology Peripheral pulmonary artery stenosis Gonadotropin deficiency Anterior hypopituitarism Aqueductal stenosis Abnormality of tibia morphology Hyposmia Tics Facial paralysis Abnormal cranial nerve morphology Abnormality of female internal genitalia Hypoplasia of the zygomatic bone Broad neck Anal stenosis Absent radius Abnormality of immune system physiology Weak cry Broad palm Mixed hearing impairment Vestibular dysfunction Hypoplasia of the ulna Microphallus Interrupted aortic arch Cupped ear Unilateral facial palsy Vomiting Hypertension Posterior choanal atresia Parachute mitral valve Hypoplasia of the semicircular canal Parathyroid hypoplasia Abnormal soft palate morphology Bifid femur Hypoplasia of the cochlea Hand monodactyly Aplasia/Hypoplasia of the thymus Dimple chin Abnormality of the inner ear Square face Abnormality of bone mineral density Abnormality of the adrenal glands Aortic arch aneurysm Bilateral choanal atresia Abnormality of the thymus Lop ear Abnormality of the cervical spine Narrow naris Arrhinencephaly Mask-like facies Obsessive-compulsive behavior Thick vermilion border Inverted nipples Small posterior fossa Duplication of phalanx of hallux Prominent fingertip pads Unilateral ptosis Small thenar eminence Facial edema Congenital ptosis Widow's peak Depressed nasal tip Acute lymphoblastic leukemia Protruding tongue Malar flattening Abnormality of the sternum Bilateral ptosis Redundant skin Hoarse voice Low anterior hairline Hypertrichosis Short palpebral fissure High myopia Lymphoma Bifid uvula Respiratory insufficiency Pneumonia Laryngomalacia Narrow face Abnormality of vision Anosmia Cutaneous syndactyly Cranial nerve paralysis Torticollis Plagiocephaly Short chin Hemivertebrae Hypogonadotrophic hypogonadism Hypocalcemia Aspiration Respiratory failure Lymphopenia Small nail Tetralogy of Fallot Vesicoureteral reflux Delayed puberty Paralysis Abnormality of the eye Apnea Facial palsy Photophobia Umbilical hernia Bilateral elbow dislocations



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