Phenotypes associated with the disease Muggenthaler-Chowdhury-Chioza syndrome (OMIM:621063):
- Scleral staphyloma (HP:0030854): A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. Evidence: PCS. Frequency: 2/2. (PMID:28081210)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Frequency: 1/1. (PMID:28081210)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 1/7. (PMID:34906488)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 2/13. (PMID:34906488;PMID:28081210)
- Acromelia (HP:0010884): Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. Evidence: PCS. Frequency: 1/4. (PMID:28081210)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: PCS. Frequency: 0/1. (PMID:28081210)
- Unilateral cleft lip (HP:0100333): A non-midline cleft of the upper lip on one side only. Evidence: PCS. Frequency: 4/13. (PMID:34906488;PMID:28081210)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 1/5. (PMID:34906488)
- Broad hallux (HP:0010055): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: PCS. Frequency: 2/2. (PMID:34906488)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 12/12. (PMID:34906488;PMID:28081210)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. Frequency: 5/9. (PMID:34906488;PMID:28081210)
- High hypermetropia (HP:0008499): A severe form of hypermetropia with over +5.00 diopters. Evidence: PCS. Frequency: 0/2. (PMID:28081210)
- Distally placed thumb (HP:0009622): Insertion of thumb at a more distal location than normal. Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 1/6. (PMID:34906488)
- Mild myopia (HP:0025573): A mild form of myopia with up to -3.00 diopters. Evidence: PCS. Frequency: 2/2. (PMID:34906488)
- Vitreous hemorrhage (HP:0007902): Bleeding within the vitreous compartment of the eye. Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 2/13. (PMID:34906488;PMID:28081210)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 0/1. (PMID:28081210)
- Persistent left superior vena cava (HP:0005301): A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. Evidence: PCS. Frequency: 2/6. (PMID:28081210)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 0/7. (PMID:28081210)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 6/7. (PMID:34906488;PMID:28081210)
- Fetal cystic hygroma (HP:0010878): The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas. Evidence: PCS. Frequency: 2/2. (PMID:34906488)
- Tricuspid regurgitation (HP:0005180): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: PCS. Frequency: 1/1. (PMID:28081210)
- 3-4 toe cutaneous syndactyly (HP:6000648): A soft tissue continuity in the anteroposterior axis between the toes 3 and 4. Evidence: PCS. Frequency: 2/4. (PMID:28081210)
- Bilateral cleft lip (HP:0100336): A non-midline cleft of the upper lip on the left and right sides. Evidence: PCS. Frequency: 5/6. (PMID:28081210)
- Bilateral cleft palate (HP:0100337): Nonmidline cleft palate on the left and right sides. Evidence: PCS. Frequency: 5/6. (PMID:28081210)
- Unilateral cleft palate (HP:0100334). Evidence: PCS. Frequency: 4/13. (PMID:34906488;PMID:28081210)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 1/7. (PMID:28081210)
- Macular degeneration (HP:0000608): A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. Evidence: PCS. Frequency: 1/1. (PMID:28081210)
- Cortical cataract (HP:0100019): A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. Evidence: PCS. Frequency: 1/1. (PMID:28081210)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 5/14. (PMID:34906488;PMID:28081210)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:28081210)
- Bilateral single transverse palmar creases (HP:0007598): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. Evidence: PCS. Frequency: 1/3. (PMID:28081210)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Aortic regurgitation (HP:0001659): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: PCS. Frequency: 2/8. (PMID:34906488;PMID:28081210)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: PCS. Frequency: 4/7. (PMID:28081210)
- Bilateral cryptorchidism (HP:0008689): Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 3/7. (PMID:34906488)
- Small earlobe (HP:0000385): Reduced volume of the earlobe. Evidence: PCS. Frequency: 2/7. (PMID:34906488)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: PCS. Frequency: 2/2. (PMID:34906488)
- Preauricular pit (HP:0004467): Small indentation anterior to the insertion of the ear. Evidence: PCS. Frequency: 2/6. (PMID:34906488)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Persistent pupillary membrane (HP:0009917): The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Hypermetropia (HP:0000540): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 2/3. (PMID:28081210)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: PCS. Frequency: 1/6. (PMID:34906488)
- Right atrial enlargement (HP:0030718): Increase in size of the right atrium. Evidence: PCS. Frequency: 1/1. (PMID:28081210)
- Left atrial enlargement (HP:0031295): Increase in size of the left atrium. Evidence: PCS. Frequency: 1/1. (PMID:28081210)
- Perimembranous ventricular septal defect (HP:0011682): A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. Evidence: PCS. Frequency: 1/6. (PMID:28081210)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 4/7. (PMID:34906488)
- 2-3 toe cutaneous syndactyly (HP:0005709). Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Cupped ear (HP:0000378): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: PCS. Frequency: 3/11. (PMID:34906488;PMID:28081210)
- Posterior subcapsular cataract (HP:0007787): A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. Evidence: PCS. Frequency: 1/1. (PMID:28081210)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Overfolded helix (HP:0000396): A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. Evidence: PCS. Frequency: 1/5. (PMID:28081210)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 12/12. (PMID:34906488;PMID:28081210)
- Thickened helices (HP:0000391): Increased thickness of the helix of the ear. Evidence: PCS. Frequency: 4/7. (PMID:34906488)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: PCS. Frequency: 1/6. (PMID:34906488)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 2/2. (PMID:34906488)
- Cor triatriatum (HP:0010774): The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name). Evidence: PCS. Frequency: 1/6. (PMID:28081210)
- Left ventricular dilatation (HP:4000141): Enlargement of the chamber of the left heart ventricle. Evidence: PCS. Frequency: 1/1. (PMID:28081210)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: PCS. Frequency: 1/6. (PMID:34906488)
- Accessory oral frenulum (HP:0000191): Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 5/5. (PMID:28081210)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: PCS. Frequency: 3/3. (PMID:34906488)
- Prominent tragus (HP:0011271): Increase posterolateral protrusion of the tragus. Evidence: PCS. Frequency: 1/6. (PMID:34906488)
- Double outlet right ventricle (HP:0001719): Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. Evidence: PCS. Frequency: 1/6. (PMID:34906488)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 2/7. (PMID:34906488)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: PCS. Frequency: 2/6. (PMID:34906488)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 4/12. (PMID:34906488;PMID:28081210)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: 1/6. (PMID:34906488)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 8/12. (PMID:34906488;PMID:28081210)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/1. (PMID:34906488)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 2/3. (PMID:28081210)