Updated: 7/25/2018

Cleft Lip and Palate

Review Topic
  • A 35-year-old mother brings her 1-week-old female infant to your clinic for difficulty with breastfeeding. The mother reveals that she had no prenatal care during her pregnancy and gave birth at home. She notes that her infant has difficulty latching onto her nipple and she occasionally sees breast milk coming out of the infant’s nose. On examination, you note that there are no obvious facial deformities, however, inspection of the oral cavity reveals a defect in the hard palate and visualization into the nasal cavity. You then decide to refer the patient to a craniofacial clinic. 
  • Etiology
    • causes are multifactorial
  • Genetics
    • concordance rate for monozygotic twins is approximately 40-60%
      • suggests that genetics does not act alone
  • Epidemiology
    • incidence
      • predominant congenital anomaly of the head and neck
        • cleft lip occurs in 1 in 1,000
          • occurs more often in males
        • cleft palate occurs in 1 in 2,000
          • occurs more often in females
      • of the known 200 syndromes associated with cleft lip and palate, van der Woude syndrome is the most common
        • due to mutations on chromosome 1
        • characterized by facial deformities, most commonly lip pits 
    • risk factors
      • alcohol
      • tobacco
      • phenytoin
      • retinoic acid
  • Prenatal ultrasound
    • can diagnose facial deformities as early as 18 weeks
    • accuracy improves with gestational age
    • upon diagnosis infant and family are immediately referred to a craniofacial center for management 
  • Following diagnosis, infant is screened for any other congenital abnormalities
  • Primary treatment is surgical correction
  • Children with cleft palate often have difficulty sucking due to air leakage between the nose and mouth
    • breast-feeding is often ineffective and specialized bottles with positional techniques are available to ensure adequate intake
    • surgery for cleft lip is usually performed around 3 months of age 
    • surgery for cleft palate is usually performed around 1 year of age, when speech is beginning to develop
    • orthodontic devices may be used to decrease size of cleft lip prior to definitive repair
  • Referral to a craniofacial clinic is necessary and comprises multiple specialists that include
    • otolaryngology
    • plastic surgery
    • oral maxillofacial surgery
    • dentistry
    • genetic counseling
    • speech-language pathology and audiology
Cleft Lip
  • Pathophysiology
    • maxillary and medial nasal prominences fail to fuse together 
    • resulting in the characteristic persistent labial groove (cleft lip)
    • complete vs. incomplete cleft lip 
    • bilateral vs. unilateral 
Cleft Palate
  • Pathophysiology
    • can be divided into anterior and posterior cleft palate
    • demarcating line is incisive foramen 
      • anterior cleft palate
        • failure of fusion of palatine shelves with primary plate
      • posterior cleft palate 
        • failure of fusion of the palatine shelves together and with the nasal septum
      • anteroposterior cleft palate
        • combination of the above two defects
  • Note
    • cleft lip and cleft palate have separate embryological causes but many times occur together 

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Questions (1)
Lab Values
Blood, Plasma, Serum Reference Range
ALT 8-20 U/L
Amylase, serum 25-125 U/L
AST 8-20 U/L
Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL
Calcium, serum (Ca2+) 8.4-10.2 mg/dL
Cholesterol, serum Rec: < 200 mg/dL
Cortisol, serum 0800 h: 5-23 μg/dL //1600 h:
3-15 μg/dL
2000 h: ≤ 50% of 0800 h
Creatine kinase, serum Male: 25-90 U/L
Female: 10-70 U/L
Creatinine, serum 0.6-1.2 mg/dL
Electrolytes, serum  
Sodium (Na+) 136-145 mEq/L
Chloride (Cl-) 95-105 mEq/L
Potassium (K+) 3.5-5.0 mEq/L
Bicarbonate (HCO3-) 22-28 mEq/L
Magnesium (Mg2+) 1.5-2.0 mEq/L
Estriol, total, serum (in pregnancy)  
24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL
28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL
Ferritin, serum Male: 15-200 ng/mL
Female: 12-150 ng/mL
Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL
Female: premenopause: 4-30 mIU/mL
midcycle peak: 10-90 mIU/mL
postmenopause: 40-250
pH 7.35-7.45
PCO2 33-45 mmHg
PO2 75-105 mmHg
Glucose, serum Fasting: 70-110 mg/dL
2-h postprandial:<120 mg/dL
Growth hormone - arginine stimulation Fasting: <5 ng/mL
Provocative stimuli: > 7ng/mL
Immunoglobulins, serum  
IgA 76-390 mg/dL
IgE 0-380 IU/mL
IgG 650-1500 mg/dL
IgM 40-345 mg/dL
Iron 50-170 μg/dL
Lactate dehydrogenase, serum 45-90 U/L
Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL
Female: follicular phase: 5-30 mIU/mL
midcycle: 75-150 mIU/mL
postmenopause 30-200 mIU/mL
Osmolality, serum 275-295 mOsmol/kd H2O
Parathyroid hormone, serume, N-terminal 230-630 pg/mL
Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L
Phosphorus (inorganic), serum 3.0-4.5 mg/dL
Prolactin, serum (hPRL) < 20 ng/mL
Proteins, serum  
Total (recumbent) 6.0-7.8 g/dL
Albumin 3.5-5.5 g/dL
Globulin 2.3-3.5 g/dL
Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL
Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h
Thyroxine (T4), serum 5-12 μg/dL
Triglycerides, serum 35-160 mg/dL
Triiodothyronine (T3), serum (RIA) 115-190 ng/dL
Triiodothyronine (T3) resin uptake 25%-35%
Urea nitrogen, serum 7-18 mg/dL
Uric acid, serum 3.0-8.2 mg/dL
Hematologic Reference Range
Bleeding time 2-7 minutes
Erythrocyte count Male: 4.3-5.9 million/mm3
Female: 3.5-5.5 million mm3
Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/h
Female: 0-20 mm/h
Hematocrit Male: 41%-53%
Female: 36%-46%
Hemoglobin A1c ≤ 6 %
Hemoglobin, blood Male: 13.5-17.5 g/dL
Female: 12.0-16.0 g/dL
Hemoglobin, plasma 1-4 mg/dL
Leukocyte count and differential  
Leukocyte count 4,500-11,000/mm3
Segmented neutrophils 54%-62%
Bands 3%-5%
Eosinophils 1%-3%
Basophils 0%-0.75%
Lymphocytes 25%-33%
Monocytes 3%-7%
Mean corpuscular hemoglobin 25.4-34.6 pg/cell
Mean corpuscular hemoglobin concentration 31%-36% Hb/cell
Mean corpuscular volume 80-100 μm3
Partial thromboplastin time (activated) 25-40 seconds
Platelet count 150,000-400,000/mm3
Prothrombin time 11-15 seconds
Reticulocyte count 0.5%-1.5% of red cells
Thrombin time < 2 seconds deviation from control
Plasma Male: 25-43 mL/kg
Female: 28-45 mL/kg
Red cell Male: 20-36 mL/kg
Female: 19-31 mL/kg
Cerebrospinal Fluid Reference Range
Cell count 0-5/mm3
Chloride 118-132 mEq/L
Gamma globulin 3%-12% total proteins
Glucose 40-70 mg/dL
Pressure 70-180 mm H2O
Proteins, total < 40 mg/dL
Sweat Reference Range
Chloride 0-35 mmol/L
Calcium 100-300 mg/24 h
Chloride Varies with intake
Creatinine clearance Male: 97-137 mL/min
Female: 88-128 mL/min
Estriol, total (in pregnancy)  
30 wks 6-18 mg/24 h
35 wks 9-28 mg/24 h
40 wks 13-42 mg/24 h
17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 h
Female: 2.0-8.0 mg/24 h
17-Ketosteroids, total Male: 8-20 mg/24 h
Female: 6-15 mg/24 h
Osmolality 50-1400 mOsmol/kg H2O
Oxalate 8-40 μg/mL
Potassium Varies with diet
Proteins, total < 150 mg/24 h
Sodium Varies with diet
Uric acid Varies with diet
Body Mass Index (BMI) Adult: 19-25 kg/m2

(M1.EB.31) A fourth-year medical student travels to Asia to participate in a medical mission. On the first day, she sees a mother and her two-year-old child (Figure A). The mother states that as an infant, the child was slow to gain weight, but was otherwise healthy and her pregnancy was uncomplicated. The child is now learning to speak, but is having difficulty. What is the embryologic etiology of the craniofacial abnormality seen?
Review Topic

QID: 101925

Failure of palatine shelves to fuse with each other




Failure of maxillary prominences to fuse with the medial nasal process




Failure of maxillary prominences to fuse with the lateral nasal process




Failure of palatine shelves to fuse with the medial nasal process




Failure of palatine shelves to fuse with the lateral nasal process




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