- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: TAS. (OMIM:257920)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 3/3. (PMID:21035106)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 5/6. (PMID:21258343)
- Lambdoidal craniosynostosis (HP:0004443): A kind of craniosynostosis affecting the lambdoidal suture. Evidence: IEA. (OMIM:257920)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: IEA. (OMIM:257920)
- Spina bifida occulta (HP:0003298): The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. Evidence: IEA. (OMIM:257920)
- Coronal craniosynostosis (HP:0004440): Premature closure of the coronal suture of skull. Evidence: TAS. (OMIM:257920)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: PCS. Frequency: 3/9. (PMID:21258343;PMID:21035106)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: PCS. Frequency: 4/6. (PMID:21258343)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. (OMIM:257920)
- 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: 6/9. (PMID:21258343;PMID:21035106)
- Dental crowding (HP:0000678): Changes in alignment of teeth in the dental arch. Evidence: IEA. (OMIM:257920)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 3/6. (PMID:21258343)
- Broad foot (HP:0001769): A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. Evidence: TAS. (OMIM:257920)
- Epicanthus inversus (HP:0000537): A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. Evidence: IEA. (OMIM:257920)
- 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: TAS. (OMIM:257920)
- Skull asymmetry (HP:0002678). Evidence: PCS. Frequency: 1/6. (PMID:21258343)
- Supernumerary nipple (HP:0002558): Presence of more than two nipples. Evidence: IEA. (OMIM:257920)
- Single interphalangeal crease of fifth finger (HP:0006216): Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. Evidence: IEA. (OMIM:257920)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/6. (PMID:21258343)
- Radioulnar synostosis (HP:0002974): An abnormal osseous union (fusion) between the radius and the ulna. Evidence: IEA. (OMIM:257920)
- Highly arched eyebrow (HP:0002553): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: PCS. Frequency: 9/9. (PMID:21258343;PMID:21035106)
- Diastasis recti (HP:0001540): A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). Evidence: PCS. Frequency: 0/6. (PMID:21258343)
- Abnormal anterior chamber morphology (HP:0000593): Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. Evidence: IEA. (OMIM:257920)
- 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: 4/6. (PMID:21258343)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:257920)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 3/3. (PMID:21035106)
- Abnormality of eye movement (HP:0000496): An abnormality in voluntary or involuntary eye movements or their control. Evidence: IEA. (OMIM:257920)
- Abnormal abdominal wall morphology (HP:0004298): The presence of any abnormality affecting the abdominal wall. Evidence: IEA. (OMIM:257920)
- Periumbilical depression (HP:6000808): The tissue that immediately surrounds the umbilicus is located below the normal plane of the abdomen. Evidence: PCS. Frequency: 1/1. (PMID:16096999)
- Underdeveloped supraorbital ridges (HP:0009891): Flatness of the supraorbital portion of the frontal bones. Evidence: IEA. (OMIM:257920)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: 2/3. (PMID:21035106)
- 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: 9/9. (PMID:21258343;PMID:21035106)
- Caudal appendage (HP:0002825): The presence of a tail-like skin appendage located adjacent to the sacrum. Evidence: PCS. Frequency: 7/9. (PMID:21258343;PMID:21035106)
- Conjunctival telangiectasia (HP:0000524): The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. Evidence: IEA. (OMIM:257920)
- 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:21035106)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: PCS. Frequency: 0/3. (PMID:21035106)
- 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: IEA. (OMIM:257920)
- Short 5th finger (HP:0009237): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: IEA. (OMIM:257920)
- 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: 2/3. (PMID:21035106)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: PCS. Frequency: 1/3. (PMID:21035106)
- 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: TAS. (OMIM:257920)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:257920)
- Sacral dimple (HP:0000960): A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. Evidence: IEA. (OMIM:257920)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: IEA. (OMIM:257920)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: PCS. Frequency: 0/3. (PMID:21035106)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: IEA. (OMIM:257920)
These phenotypes are associated with the disease 3MC syndrome 1 (OMIM:257920).