At this time, the patient additionally presented muscular hypotonia and presented with moderate intellectual disability, aggressive and hyperactive behavior, limited verbal language repertoire and dysarthria. [ncbi.nlm.nih.gov]

Classically, patients with this syndrome present with microcephaly, a round face, hypertelorism, micrognathia, prominent nasal bridge, epicanthic folds, hypotonia, and severe psychomotor retardation. [jmg.bmj.com]

At present he has a weight of 11 kg (<P5), height 84 cm (<P5) and head circumference of 48 cm (P25). [cyberleninka.org]

• Short Stature

  Symptoms * Short stature * Short nose * Small nose * Short neck * Stillbirth * Small jaw * Short head * Cleft palate * Curved fifth finger * Depressed nasal bridge * Abnormal ear shape * Abnormal ear structure * High vaulted palate * Narrow palate * Wide [checkorphan.org]

  Other features may include hypotonia; short stature; seizures; heart defects; structural brain anomalies (most commonly underdevelopment of the corpus callosum); genitourinary abnormalities; cleft palate; microcephaly; vision problems; hearing loss; and [rarediseases.info.nih.gov]

  More than 100 cases have been described in literature and the clinical findings include developmental delay, short stature, congenital heart defects (CHD), thrombocytopenia, genitourinary anomalies, pyloric stenosis, and ophthalmologic anomalies. [ncbi.nlm.nih.gov]

• Poor Feeding

  Features may include poor feeding in infancy; developmental delay including delayed or absent speech; and moderate to severe intellectual disability. [rarediseases.info.nih.gov]

• Systolic Murmur

  A two dimensional echocardiogram, performed because of the presence of a systolic murmur, was normal. Permission to publish clinical photographs was refused. Case 1 was evaluated for obstructive sleep apnoea (OSA) using standard polysomnography. [jmg.bmj.com]

• High Arched Palate

  Clinical features included a high voice, epicanthic folds, divergent strabismus, micrognathia, a high arched palate, slightly low set ears, incomplete bilateral flexion creases, diastasis recti, flat arches of the feet, and talipes of the left foot (fig [jmg.bmj.com]

  ocular hypertelorism, downslanted palpebral fissures, anteverted nares, thick eyebrows and high-arched palate, but he has no hematologic abnormalities as observed in patients with Jacobsen syndrome. [ncbi.nlm.nih.gov]

• Small Head

  Symptoms * Short stature * Short nose * Small nose * Short neck * Stillbirth * Small jaw * Short head * Cleft palate * Curved fifth finger * Depressed nasal bridge * Abnormal ear shape * Abnormal ear structure * High vaulted palate * Narrow palate * Wide [checkorphan.org]

• Low Set Ears

  set eyes * Fetal growth retardation * Low-set ears * Small eyes * Joint anomaly * Infant death * Anteverted nostrils * Malplaced anus * Small head * Thin lips Diagnosis This medical information about signs and symptoms for Chromosome 1, monosomy 1q32 [checkorphan.org]

  Clinical features included a high voice, downward slanting palpebral fissures, broad nasal bridge, hypertelorism, epicanthic folds, slight micrognathia, slightly low set ears, diastasis recti, and flat arches of the feet. [jmg.bmj.com]

• Small Eyes

  […] set eyes * Fetal growth retardation * Low-set ears * Small eyes * Joint anomaly * Infant death * Anteverted nostrils * Malplaced anus * Small head * Thin lips Diagnosis This medical information about signs and symptoms for Chromosome 1, monosomy 1q32 [checkorphan.org]

• Hypertelorism

  Classically, patients with this syndrome present with microcephaly, a round face, hypertelorism, micrognathia, prominent nasal bridge, epicanthic folds, hypotonia, and severe psychomotor retardation. [jmg.bmj.com]

  We consider that our patient shows a phenotype that resembles trisomy 1q41-qter syndrome, as he has brachicephaly, triangular face, temporal indentation, hypertelorism, anteverted nostrils, low set and malformed ears, micrognathia and narrow palate, all [cyberleninka.org]

  The main clinical features include motor developmental delay, pre and postnatal growth retardation, trigonocephaly, thrombocyto- or pancytopenia, cardiac defects, hypertelorism, downslanted palpebral fissures, short nose, anteverted nares, thin upper [ncbi.nlm.nih.gov]

• Short Nose

  Symptoms * Short stature * Short nose * Small nose * Short neck * Stillbirth * Small jaw * Short head * Cleft palate * Curved fifth finger * Depressed nasal bridge * Abnormal ear shape * Abnormal ear structure * High vaulted palate * Narrow palate * Wide [checkorphan.org]

  The main clinical features include motor developmental delay, pre and postnatal growth retardation, trigonocephaly, thrombocyto- or pancytopenia, cardiac defects, hypertelorism, downslanted palpebral fissures, short nose, anteverted nares, thin upper [ncbi.nlm.nih.gov]

• Thin Lips

  lips Diagnosis This medical information about signs and symptoms for Chromosome 1, monosomy 1q32 q42 has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 1, monosomy 1q32 q42 signs or Chromosome [checkorphan.org]

  In comparison to him, she did not have downward slanting palpebral fissures or obesity and had thin lips with a long philtrum. Her secondary sexual development was found to be normal. [jmg.bmj.com]

• Depressed Nasal Bridge

  Symptoms * Short stature * Short nose * Small nose * Short neck * Stillbirth * Small jaw * Short head * Cleft palate * Curved fifth finger * Depressed nasal bridge * Abnormal ear shape * Abnormal ear structure * High vaulted palate * Narrow palate * Wide [checkorphan.org]

• Short Neck

  Symptoms * Short stature * Short nose * Small nose * Short neck * Stillbirth * Small jaw * Short head * Cleft palate * Curved fifth finger * Depressed nasal bridge * Abnormal ear shape * Abnormal ear structure * High vaulted palate * Narrow palate * Wide [checkorphan.org]

• Somnolence

  The mother noted that he snored loudly but there were no complaints of daytime somnolence. He had been slow in attaining developmental milestones and was found to be educationally subnormal with an IQ of 50 ± 8. [jmg.bmj.com]

However, these malformations may be multifactorial in their etiology. [cyberleninka.org]